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P15289

- ARSA_HUMAN

UniProt

P15289 - ARSA_HUMAN

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Protein
Arylsulfatase A
Gene
ARSA
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Hydrolyzes cerebroside sulfate.

Catalytic activityi

A cerebroside 3-sulfate + H2O = a cerebroside + sulfate.

Cofactori

Binds 1 calcium ion per subunit.1 Publication

Enzyme regulationi

Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi29 – 291Calcium
Metal bindingi30 – 301Calcium
Metal bindingi69 – 691Calcium; via 3-oxoalanine
Binding sitei123 – 1231Substrate
Active sitei125 – 12511 Publication
Binding sitei150 – 1501Substrate
Binding sitei229 – 2291Substrate
Metal bindingi281 – 2811Calcium
Metal bindingi282 – 2821Calcium
Binding sitei302 – 3021Substrate

GO - Molecular functioni

  1. arylsulfatase activity Source: ProtInc
  2. calcium ion binding Source: UniProtKB
  3. cerebroside-sulfatase activity Source: Reactome
  4. sulfuric ester hydrolase activity Source: MGI

GO - Biological processi

  1. autophagy Source: Ensembl
  2. binding of sperm to zona pellucida Source: Ensembl
  3. cellular protein metabolic process Source: Reactome
  4. central nervous system development Source: Ensembl
  5. glycosphingolipid metabolic process Source: Reactome
  6. post-translational protein modification Source: Reactome
  7. response to estrogen Source: Ensembl
  8. response to ethanol Source: Ensembl
  9. response to methylmercury Source: Ensembl
  10. response to nutrient Source: Ensembl
  11. response to pH Source: Ensembl
  12. small molecule metabolic process Source: Reactome
  13. sphingolipid metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BRENDAi3.1.6.8. 2681.
ReactomeiREACT_116105. Glycosphingolipid metabolism.
REACT_121036. The activation of arylsulfatases.

Names & Taxonomyi

Protein namesi
Recommended name:
Arylsulfatase A (EC:3.1.6.8)
Short name:
ASA
Alternative name(s):
Cerebroside-sulfatase
Cleaved into the following 2 chains:
Gene namesi
Name:ARSA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:713. ARSA.

Subcellular locationi

GO - Cellular componenti

  1. acrosomal vesicle Source: Ensembl
  2. endoplasmic reticulum lumen Source: Reactome
  3. endosome Source: Ensembl
  4. extracellular space Source: Ensembl
  5. extracellular vesicular exosome Source: UniProt
  6. extrinsic component of external side of plasma membrane Source: Ensembl
  7. integral component of membrane Source: Ensembl
  8. lysosomal lumen Source: Reactome
  9. lysosome Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Leukodystrophy metachromatic (MLD) [MIM:250100]: A leukodystrophy due to a lysosomal storage defect. Characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non-neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult.
Note: The disease is caused by mutations affecting the gene represented in this entry.41 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181A → D in MLD; enzyme activity reduced to 5% of wild-type enzyme. 1 Publication
Corresponds to variant rs199476339 [ dbSNP | Ensembl ].
VAR_054164
Natural varianti29 – 291D → N in MLD; infantile-onset; causes a severe reduction of enzyme activity. 1 Publication
Corresponds to variant rs199476346 [ dbSNP | Ensembl ].
VAR_054165
Natural varianti30 – 301D → H in MLD; enzyme activity reduced to 2.4% of wild-type enzyme. 1 Publication
Corresponds to variant rs199476340 [ dbSNP | Ensembl ].
VAR_054166
Natural varianti32 – 321G → S in MLD; late-infantile form. 1 Publication
Corresponds to variant rs199476350 [ dbSNP | Ensembl ].
VAR_054167
Natural varianti52 – 521L → P in MLD; loss of enzymatic activity. 1 Publication
Corresponds to variant rs199476357 [ dbSNP | Ensembl ].
VAR_067414
Natural varianti68 – 681L → P in MLD; late-infantile form. 1 Publication
Corresponds to variant rs199476351 [ dbSNP | Ensembl ].
VAR_054168
Natural varianti82 – 821P → L in MLD; late-infantile-onset. 2 Publications
Corresponds to variant rs6151411 [ dbSNP | Ensembl ].
VAR_007244
Natural varianti84 – 841R → Q in MLD; mild. 2 Publications
Corresponds to variant rs74315458 [ dbSNP | Ensembl ].
VAR_007245
Natural varianti84 – 841R → W in MLD; juvenile form. 1 Publication
Corresponds to variant rs199476352 [ dbSNP | Ensembl ].
VAR_054169
Natural varianti86 – 861G → D in MLD; severe; no enzyme residual activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment. 2 Publications
Corresponds to variant rs74315460 [ dbSNP | Ensembl ].
VAR_007246
Natural varianti94 – 941P → A in MLD; adult form. 1 Publication
Corresponds to variant rs199476353 [ dbSNP | Ensembl ].
VAR_054170
Natural varianti95 – 951S → N in MLD. 1 Publication
Corresponds to variant rs199476363 [ dbSNP | Ensembl ].
VAR_007247
Natural varianti96 – 961S → F in MLD; severe. 1 Publication
Corresponds to variant rs74315456 [ dbSNP | Ensembl ].
VAR_007248
Natural varianti96 – 961S → L in MLD; severe; no enzyme residual activity. 1 Publication
Corresponds to variant rs199476371 [ dbSNP | Ensembl ].
VAR_007249
Natural varianti99 – 991G → D in MLD; adult type. 2 Publications
Corresponds to variant rs74315455 [ dbSNP | Ensembl ].
VAR_007250
Natural varianti99 – 991G → V in MLD; late-infantile form. 1 Publication
Corresponds to variant rs74315455 [ dbSNP | Ensembl ].
VAR_054171
Natural varianti119 – 1191G → R in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs199476364 [ dbSNP | Ensembl ].
VAR_007251
Natural varianti122 – 1221G → S in MLD; adult type. 1 Publication
Corresponds to variant rs74315461 [ dbSNP | Ensembl ].
VAR_007252
Natural varianti135 – 1351L → P in MLD. 1 Publication
Corresponds to variant rs121434215 [ dbSNP | Ensembl ].
VAR_007253
Natural varianti136 – 1361P → L in MLD; severe late-infantile type; loss of enzymatic activity. 1 Publication
Corresponds to variant rs74315462 [ dbSNP | Ensembl ].
VAR_007254
Natural varianti136 – 1361P → S in MLD; late-infantile form. 2 Publications
Corresponds to variant rs60504011 [ dbSNP | Ensembl ].
VAR_054172
Natural varianti137 – 1371Missing in MLD. 1 Publication
VAR_054173
Natural varianti138 – 1381H → D in MLD; significantly lower activity than wild-type protein. 1 Publication
Corresponds to variant rs199476358 [ dbSNP | Ensembl ].
VAR_067415
Natural varianti143 – 1431R → G in MLD; juvenile/adult-onset; generates 5% as much activity as the parallel normal control. 1 Publication
Corresponds to variant rs199476373 [ dbSNP | Ensembl ].
VAR_054174
Natural varianti148 – 1481P → L in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs199476375 [ dbSNP | Ensembl ].
VAR_054175
Natural varianti152 – 1521D → Y in MLD. 1 Publication
Corresponds to variant rs199476365 [ dbSNP | Ensembl ].
VAR_007255
Natural varianti153 – 1531Q → H in MLD; late-infantile form; no enzyme residual activity. 1 Publication
Corresponds to variant rs199476377 [ dbSNP | Ensembl ].
VAR_054176
Natural varianti154 – 1541G → D in MLD. 1 Publication
Corresponds to variant rs74315463 [ dbSNP | Ensembl ].
VAR_007256
Natural varianti155 – 1551P → L in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs74315464 [ dbSNP | Ensembl ].
VAR_054177
Natural varianti155 – 1551P → R in MLD.
Corresponds to variant rs74315464 [ dbSNP | Ensembl ].
VAR_007257
Natural varianti156 – 1561C → R in MLD; adult type; enzyme activity reduced to 50% of wild-type enzyme. 1 Publication
Corresponds to variant rs199476348 [ dbSNP | Ensembl ].
VAR_054178
Natural varianti167 – 1671P → R in MLD.
Corresponds to variant rs74315465 [ dbSNP | Ensembl ].
VAR_007258
Natural varianti169 – 1691D → N in MLD.
Corresponds to variant rs74315466 [ dbSNP | Ensembl ].
VAR_007259
Natural varianti172 – 1721C → Y in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs199476381 [ dbSNP | Ensembl ].
VAR_007260
Natural varianti179 – 1791I → S in MLD; mild. 5 Publications
Corresponds to variant rs74315457 [ dbSNP | Ensembl ].
VAR_007261
Natural varianti181 – 1811L → Q in MLD; infantile form. 1 Publication
Corresponds to variant rs199476378 [ dbSNP | Ensembl ].
VAR_054179
Natural varianti190 – 1901Q → H in MLD; no enzyme residual activity. 1 Publication
Corresponds to variant rs199476372 [ dbSNP | Ensembl ].
VAR_054180
Natural varianti191 – 1911P → T in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs199476374 [ dbSNP | Ensembl ].
VAR_054181
Natural varianti201 – 2011Y → C in MLD; juvenile-onset; results in higly reduced enzyme activity and stability; the mutant enzyme is kept in a prelysosomal compartment. 3 Publications
Corresponds to variant rs199476345 [ dbSNP | Ensembl ].
VAR_007263
Natural varianti212 – 2121A → P in MLD; loss of enzymatic activity. 2 Publications
Corresponds to variant rs199476341 [ dbSNP | Ensembl ].
VAR_054182
Natural varianti212 – 2121A → V in MLD. 3 Publications
Corresponds to variant rs74315467 [ dbSNP | Ensembl ].
VAR_007264
Natural varianti217 – 2171R → H in MLD; enzyme activity reduced to 15.6% of wild-type enzyme. 1 Publication
Corresponds to variant rs148403406 [ dbSNP | Ensembl ].
VAR_054183
Natural varianti219 – 2191F → V in MLD; enzyme activity reduced to less than 1% of normal activity. 1 Publication
Corresponds to variant rs199476383 [ dbSNP | Ensembl ].
VAR_054184
Natural varianti224 – 2241A → V in MLD. 1 Publication
Corresponds to variant rs74315468 [ dbSNP | Ensembl ].
VAR_007265
Natural varianti227 – 2271H → Y in MLD; late-infantile form. 1 Publication
Corresponds to variant rs199476354 [ dbSNP | Ensembl ].
VAR_054185
Natural varianti231 – 2311P → T in MLD.
Corresponds to variant rs74315469 [ dbSNP | Ensembl ].
VAR_007266
Natural varianti244 – 2441R → C in MLD; juvenile-onset.
Corresponds to variant rs74315470 [ dbSNP | Ensembl ].
VAR_007267
Natural varianti244 – 2441R → H in MLD; infantile-onset. 1 Publication
Corresponds to variant rs199476366 [ dbSNP | Ensembl ].
VAR_007268
Natural varianti245 – 2451G → R in MLD; severe. 1 Publication
Corresponds to variant rs74315471 [ dbSNP | Ensembl ].
VAR_007269
Natural varianti247 – 2471F → S in MLD. 2 Publications
Corresponds to variant rs199476384 [ dbSNP | Ensembl ].
VAR_054186
Natural varianti250 – 2501S → Y in MLD; infantile-onset. 1 Publication
Corresponds to variant rs199476367 [ dbSNP | Ensembl ].
VAR_007270
Natural varianti253 – 2531E → K in MLD; late-infantile. 2 Publications
Corresponds to variant rs74315483 [ dbSNP | Ensembl ].
VAR_054187
Natural varianti255 – 2551D → H in MLD; late-infantile form; no enzyme residual activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment. 2 Publications
Corresponds to variant rs80338819 [ dbSNP | Ensembl ].
VAR_054188
Natural varianti274 – 2741T → M in MLD; severe; 35% of normal activity. 3 Publications
Corresponds to variant rs74315472 [ dbSNP | Ensembl ].
VAR_007271
Natural varianti281 – 2811D → Y in MLD. 1 Publication
Corresponds to variant rs199476386 [ dbSNP | Ensembl ].
VAR_054189
Natural varianti282 – 2821N → S in MLD; enzyme activity reduced to 0.6% of wild-type enzyme. 1 Publication
Corresponds to variant rs199476342 [ dbSNP | Ensembl ].
VAR_054190
Natural varianti286 – 2861T → P in MLD; adult type. 1 Publication
Corresponds to variant rs28940894 [ dbSNP | Ensembl ].
VAR_054191
Natural varianti288 – 2881R → C in MLD. 1 Publication
Corresponds to variant rs74315473 [ dbSNP | Ensembl ].
VAR_007272
Natural varianti288 – 2881R → H in MLD; adult form. 1 Publication
Corresponds to variant rs199476355 [ dbSNP | Ensembl ].
VAR_054192
Natural varianti293 – 2931G → D in MLD; late-onset. 1 Publication
Corresponds to variant rs199476387 [ dbSNP | Ensembl ].
VAR_054193
Natural varianti293 – 2931G → S in MLD; adult type; causes a severe reduction of enzyme activity. 1 Publication
Corresponds to variant rs199476349 [ dbSNP | Ensembl ].
VAR_054194
Natural varianti294 – 2941C → Y in MLD; juvenile-onset; causes a severe reduction of enzyme activity. 1 Publication
Corresponds to variant rs199476347 [ dbSNP | Ensembl ].
VAR_054195
Natural varianti295 – 2951S → Y in MLD; severe. 1 Publication
Corresponds to variant rs74315474 [ dbSNP | Ensembl ].
VAR_007273
Natural varianti298 – 2981L → S in MLD; late-infantile form; complete loss of enzyme activity. 1 Publication
Corresponds to variant rs199476389 [ dbSNP | Ensembl ].
VAR_054196
Natural varianti300 – 3001C → F in MLD; late-infantile-onset; enzyme activity reduced to less than 1%; the mutant protein is more rapidly degraded in lysosomes; strongly interferes with the octamerization process of the enzyme at low pH. 3 Publications
Corresponds to variant rs74315484 [ dbSNP | Ensembl ].
VAR_008132
Natural varianti302 – 3021K → N in MLD; enzyme activity reduced to 2.8% of wild-type enzyme. 1 Publication
Corresponds to variant rs199476343 [ dbSNP | Ensembl ].
VAR_054197
Natural varianti304 – 3041T → M in MLD; loss of enzymatic activity. 1 Publication
Corresponds to variant rs199476359 [ dbSNP | Ensembl ].
VAR_067416
Natural varianti306 – 3061Y → H in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs199476379 [ dbSNP | Ensembl ].
VAR_054198
Natural varianti307 – 3071E → K in MLD; loss of enzymatic activity. 1 Publication
Corresponds to variant rs199476360 [ dbSNP | Ensembl ].
VAR_067417
Natural varianti308 – 3081G → D in MLD; late-infantile form. 1 Publication
Corresponds to variant rs199476356 [ dbSNP | Ensembl ].
VAR_054199
Natural varianti308 – 3081G → V in MLD; late-infantile form; no enzyme residual activity. 1 Publication
Corresponds to variant rs199476356 [ dbSNP | Ensembl ].
VAR_054200
Natural varianti309 – 3091G → S in MLD; severe; 13% of normal activity. 2 Publications
Corresponds to variant rs74315459 [ dbSNP | Ensembl ].
VAR_007274
Natural varianti311 – 3111R → Q in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs199476382 [ dbSNP | Ensembl ].
VAR_007275
Natural varianti312 – 3121E → D in MLD; low amounts of residual enzyme activity; leads to a decreased stability of the mutant enzyme. 1 Publication
Corresponds to variant rs199476390 [ dbSNP | Ensembl ].
VAR_054201
Natural varianti314 – 3141A → T in MLD; infantile-onset. 1 Publication
Corresponds to variant rs199476368 [ dbSNP | Ensembl ].
VAR_007276
Natural varianti325 – 3251G → S in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs148092995 [ dbSNP | Ensembl ].
VAR_054202
Natural varianti327 – 3271T → I in MLD; late-infantile form. 1 Publication
VAR_054203
Natural varianti335 – 3351D → V in MLD; late-infantile-onset; loss of enzymatic activity. 5 Publications
Corresponds to variant rs74315475 [ dbSNP | Ensembl ].
VAR_007277
Natural varianti367 – 3671K → N in MLD. 1 Publication
Corresponds to variant rs199476369 [ dbSNP | Ensembl ].
VAR_007279
Natural varianti370 – 3701R → Q in MLD; mild.
Corresponds to variant rs74315477 [ dbSNP | Ensembl ].
VAR_007280
Natural varianti370 – 3701R → W in MLD; severe; no enzyme residual activity. 2 Publications
Corresponds to variant rs74315476 [ dbSNP | Ensembl ].
VAR_007281
Natural varianti376 – 3761Y → N in MLD; enzyme activity reduced to 4.7% of wild-type enzyme. 1 Publication
Corresponds to variant rs199476344 [ dbSNP | Ensembl ].
VAR_054204
Natural varianti377 – 3771P → L in MLD; severe. 1 Publication
Corresponds to variant rs74315478 [ dbSNP | Ensembl ].
VAR_007282
Natural varianti381 – 3811D → E in MLD; early-infantile form. 1 Publication
Corresponds to variant rs6151425 [ dbSNP | Ensembl ].
VAR_054205
Natural varianti382 – 3821E → K in MLD; intermediate. 1 Publication
Corresponds to variant rs74315479 [ dbSNP | Ensembl ].
VAR_007283
Natural varianti384 – 3841R → C in MLD. 1 Publication
Corresponds to variant rs199476370 [ dbSNP | Ensembl ].
VAR_007284
Natural varianti390 – 3901R → Q in MLD; juvenile-onset. 2 Publications
Corresponds to variant rs199476391 [ dbSNP | Ensembl ].
VAR_007285
Natural varianti390 – 3901R → W in MLD; late-infantile and juvenile-onset. 3 Publications
Corresponds to variant rs74315480 [ dbSNP | Ensembl ].
VAR_007286
Natural varianti397 – 3971H → Y in MLD; adult-onset. 3 Publications
Corresponds to variant rs199476376 [ dbSNP | Ensembl ].
VAR_007288
Natural varianti398 – 3981Missing in MLD.
VAR_007289
Natural varianti406 – 4083Missing in MLD; late-infantile-onset.
VAR_007290
Natural varianti406 – 4061S → G in MLD; loss of enzymatic activity. 1 Publication
Corresponds to variant rs199476361 [ dbSNP | Ensembl ].
VAR_067418
Natural varianti408 – 4081T → I in MLD; adult type. 1 Publication
Corresponds to variant rs28940895 [ dbSNP | Ensembl ].
VAR_054206
Natural varianti409 – 4091T → I in MLD; mild. 2 Publications
Corresponds to variant rs74315481 [ dbSNP | Ensembl ].
VAR_054207
Natural varianti425 – 4251P → T in MLD; juvenile-onset; retains about 12% of specific enzyme activity; the mutant protein is unstable; results in more rapid enzyme degradation in lysosomes; addition of the cysteine protease inhibitor leupeptin increases the amount of the enzyme activity; displays a modest reduction in the octamerization process of the enzyme at low pH. 3 Publications
Corresponds to variant rs74315485 [ dbSNP | Ensembl ].
VAR_008133
Natural varianti426 – 4261P → L in MLD; juvenile/adult-onset; mild; common mutation. 8 Publications
Corresponds to variant rs28940893 [ dbSNP | Ensembl ].
VAR_007291
Natural varianti428 – 4281L → P in MLD; late-infantile form. 2 Publications
Corresponds to variant rs199476392 [ dbSNP | Ensembl ].
VAR_054208
Natural varianti429 – 4291Y → S in MLD; adult-onset. 1 Publication
Corresponds to variant rs199476380 [ dbSNP | Ensembl ].
VAR_054209
Natural varianti469 – 4691A → G in MLD; early-infantile form. 1 Publication
Corresponds to variant rs199476385 [ dbSNP | Ensembl ].
VAR_054210
Natural varianti489 – 4891C → G in MLD; late-onset. 1 Publication
Corresponds to variant rs199476388 [ dbSNP | Ensembl ].
VAR_054211
Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.
Note: The protein represented in this entry is involved in disease pathogenesis. Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSA at residue Cys-69 that is not converted to 3-oxoalanine.2 Publications

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi69 – 691C → A: Abolishes enzyme activity. 1 Publication
Mutagenesisi69 – 691C → S: Strongly decreases enzyme activity. 1 Publication

Keywords - Diseasei

Disease mutation, Ichthyosis, Leukodystrophy, Metachromatic leukodystrophy

Organism-specific databases

MIMi250100. phenotype.
272200. phenotype.
Orphaneti309271. Metachromatic leukodystrophy, adult form.
309263. Metachromatic leukodystrophy, juvenile form.
309256. Metachromatic leukodystrophy, late infantile form.
751. Pseudoarylsulfatase A deficiency.
PharmGKBiPA25005.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 18181 Publication
Add
BLAST
Chaini19 – 507489Arylsulfatase A
PRO_0000033417Add
BLAST
Chaini19 – 444426Arylsulfatase A component B
PRO_0000033418Add
BLAST
Chaini448 – 50760Arylsulfatase A component C
PRO_0000033419Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei69 – 6913-oxoalanine (Cys)
Disulfide bondi156 ↔ 172
Glycosylationi158 – 1581N-linked (GlcNAc...)2 Publications
Disulfide bondi161 ↔ 168
Glycosylationi184 – 1841N-linked (GlcNAc...)1 Publication
Disulfide bondi300 ↔ 414
Glycosylationi350 – 3501N-linked (GlcNAc...)1 Publication
Disulfide bondi488 ↔ 500
Disulfide bondi489 ↔ 502
Disulfide bondi493 ↔ 499

Post-translational modificationi

The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD).

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP15289.
PaxDbiP15289.
PRIDEiP15289.

PTM databases

UniCarbKBiP15289.

Miscellaneous databases

PMAP-CutDBP15289.

Expressioni

Gene expression databases

BgeeiP15289.
CleanExiHS_ARSA.
GenevestigatoriP15289.

Organism-specific databases

HPAiCAB025183.
HPA005554.

Interactioni

Subunit structurei

Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts with SUMF1.3 Publications

Protein-protein interaction databases

BioGridi106903. 4 interactions.
IntActiP15289. 5 interactions.
STRINGi9606.ENSP00000216124.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi22 – 309
Helixi37 – 393
Helixi47 – 548
Beta strandi56 – 638
Beta strandi65 – 684
Helixi69 – 7810
Helixi82 – 854
Helixi107 – 1126
Turni113 – 1153
Beta strandi117 – 1226
Helixi130 – 1323
Helixi136 – 1394
Beta strandi142 – 1465
Beta strandi153 – 1553
Beta strandi159 – 1624
Turni163 – 1653
Beta strandi181 – 1833
Beta strandi186 – 1916
Helixi194 – 1963
Helixi197 – 21418
Beta strandi219 – 2246
Beta strandi229 – 2313
Turni236 – 2416
Beta strandi242 – 2443
Helixi245 – 26723
Helixi271 – 2733
Beta strandi274 – 2829
Helixi286 – 2916
Beta strandi304 – 3063
Helixi307 – 3104
Beta strandi315 – 3173
Turni319 – 3213
Beta strandi324 – 3274
Helixi333 – 3353
Helixi336 – 3438
Helixi359 – 3635
Beta strandi372 – 3754
Turni382 – 3843
Beta strandi387 – 3915
Beta strandi394 – 4007
Helixi404 – 4063
Beta strandi408 – 4103
Helixi412 – 4143
Beta strandi421 – 43010
Turni431 – 4333
Helixi450 – 46920
Helixi477 – 4793
Helixi483 – 4853
Turni496 – 4994

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1AUKX-ray2.10A19-507[»]
1E1ZX-ray2.40P19-507[»]
1E2SX-ray2.35P19-507[»]
1E33X-ray2.50P19-507[»]
1E3CX-ray2.65P19-507[»]
1N2KX-ray2.75A19-507[»]
1N2LX-ray3.20A19-507[»]
2AIJX-ray1.55P69-73[»]
2AIKX-ray1.73P68-74[»]
2HI8X-ray1.64P69-73[»]
ProteinModelPortaliP15289.
SMRiP15289. Positions 19-504.

Miscellaneous databases

EvolutionaryTraceiP15289.

Family & Domainsi

Sequence similaritiesi

Belongs to the sulfatase family.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG3119.
HOGENOMiHOG000135352.
HOVERGENiHBG004283.
InParanoidiP15289.
KOiK01134.
OrthoDBiEOG7QZG9J.
PhylomeDBiP15289.

Family and domain databases

Gene3Di3.40.720.10. 1 hit.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR000917. Sulfatase.
IPR024607. Sulfatase_CS.
[Graphical view]
PfamiPF00884. Sulfatase. 1 hit.
[Graphical view]
SUPFAMiSSF53649. SSF53649. 1 hit.
PROSITEiPS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P15289-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MGAPRSLLLA LAAGLAVARP PNIVLIFADD LGYGDLGCYG HPSSTTPNLD    50
QLAAGGLRFT DFYVPVSLCT PSRAALLTGR LPVRMGMYPG VLVPSSRGGL 100
PLEEVTVAEV LAARGYLTGM AGKWHLGVGP EGAFLPPHQG FHRFLGIPYS 150
HDQGPCQNLT CFPPATPCDG GCDQGLVPIP LLANLSVEAQ PPWLPGLEAR 200
YMAFAHDLMA DAQRQDRPFF LYYASHHTHY PQFSGQSFAE RSGRGPFGDS 250
LMELDAAVGT LMTAIGDLGL LEETLVIFTA DNGPETMRMS RGGCSGLLRC 300
GKGTTYEGGV REPALAFWPG HIAPGVTHEL ASSLDLLPTL AALAGAPLPN 350
VTLDGFDLSP LLLGTGKSPR QSLFFYPSYP DEVRGVFAVR TGKYKAHFFT 400
QGSAHSDTTA DPACHASSSL TAHEPPLLYD LSKDPGENYN LLGGVAGATP 450
EVLQALKQLQ LLKAQLDAAV TFGPSQVARG EDPALQICCH PGCTPRPACC 500
HCPDPHA 507
Length:507
Mass (Da):53,588
Last modified:February 1, 1991 - v3
Checksum:i3DDBE1378B4176A6
GO
Isoform 2 (identifier: P15289-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-84: Missing.

Note: No experimental confirmation available.

Show »
Length:423
Mass (Da):44,881
Checksum:iD67E0EE072BEC7BB
GO

Sequence cautioni

The sequence AAB03341.1 differs from that shown. Reason: Erroneous initiation.
The sequence BAH11167.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181A → D in MLD; enzyme activity reduced to 5% of wild-type enzyme. 1 Publication
Corresponds to variant rs199476339 [ dbSNP | Ensembl ].
VAR_054164
Natural varianti29 – 291D → N in MLD; infantile-onset; causes a severe reduction of enzyme activity. 1 Publication
Corresponds to variant rs199476346 [ dbSNP | Ensembl ].
VAR_054165
Natural varianti30 – 301D → H in MLD; enzyme activity reduced to 2.4% of wild-type enzyme. 1 Publication
Corresponds to variant rs199476340 [ dbSNP | Ensembl ].
VAR_054166
Natural varianti32 – 321G → S in MLD; late-infantile form. 1 Publication
Corresponds to variant rs199476350 [ dbSNP | Ensembl ].
VAR_054167
Natural varianti52 – 521L → P in MLD; loss of enzymatic activity. 1 Publication
Corresponds to variant rs199476357 [ dbSNP | Ensembl ].
VAR_067414
Natural varianti68 – 681L → P in MLD; late-infantile form. 1 Publication
Corresponds to variant rs199476351 [ dbSNP | Ensembl ].
VAR_054168
Natural varianti76 – 761L → P.1 Publication
Corresponds to variant rs199476362 [ dbSNP | Ensembl ].
VAR_007243
Natural varianti82 – 821P → L in MLD; late-infantile-onset. 2 Publications
Corresponds to variant rs6151411 [ dbSNP | Ensembl ].
VAR_007244
Natural varianti84 – 841R → Q in MLD; mild. 2 Publications
Corresponds to variant rs74315458 [ dbSNP | Ensembl ].
VAR_007245
Natural varianti84 – 841R → W in MLD; juvenile form. 1 Publication
Corresponds to variant rs199476352 [ dbSNP | Ensembl ].
VAR_054169
Natural varianti86 – 861G → D in MLD; severe; no enzyme residual activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment. 2 Publications
Corresponds to variant rs74315460 [ dbSNP | Ensembl ].
VAR_007246
Natural varianti94 – 941P → A in MLD; adult form. 1 Publication
Corresponds to variant rs199476353 [ dbSNP | Ensembl ].
VAR_054170
Natural varianti95 – 951S → N in MLD. 1 Publication
Corresponds to variant rs199476363 [ dbSNP | Ensembl ].
VAR_007247
Natural varianti96 – 961S → F in MLD; severe. 1 Publication
Corresponds to variant rs74315456 [ dbSNP | Ensembl ].
VAR_007248
Natural varianti96 – 961S → L in MLD; severe; no enzyme residual activity. 1 Publication
Corresponds to variant rs199476371 [ dbSNP | Ensembl ].
VAR_007249
Natural varianti99 – 991G → D in MLD; adult type. 2 Publications
Corresponds to variant rs74315455 [ dbSNP | Ensembl ].
VAR_007250
Natural varianti99 – 991G → V in MLD; late-infantile form. 1 Publication
Corresponds to variant rs74315455 [ dbSNP | Ensembl ].
VAR_054171
Natural varianti119 – 1191G → R in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs199476364 [ dbSNP | Ensembl ].
VAR_007251
Natural varianti122 – 1221G → S in MLD; adult type. 1 Publication
Corresponds to variant rs74315461 [ dbSNP | Ensembl ].
VAR_007252
Natural varianti135 – 1351L → P in MLD. 1 Publication
Corresponds to variant rs121434215 [ dbSNP | Ensembl ].
VAR_007253
Natural varianti136 – 1361P → L in MLD; severe late-infantile type; loss of enzymatic activity. 1 Publication
Corresponds to variant rs74315462 [ dbSNP | Ensembl ].
VAR_007254
Natural varianti136 – 1361P → S in MLD; late-infantile form. 2 Publications
Corresponds to variant rs60504011 [ dbSNP | Ensembl ].
VAR_054172
Natural varianti137 – 1371Missing in MLD. 1 Publication
VAR_054173
Natural varianti138 – 1381H → D in MLD; significantly lower activity than wild-type protein. 1 Publication
Corresponds to variant rs199476358 [ dbSNP | Ensembl ].
VAR_067415
Natural varianti143 – 1431R → G in MLD; juvenile/adult-onset; generates 5% as much activity as the parallel normal control. 1 Publication
Corresponds to variant rs199476373 [ dbSNP | Ensembl ].
VAR_054174
Natural varianti148 – 1481P → L in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs199476375 [ dbSNP | Ensembl ].
VAR_054175
Natural varianti152 – 1521D → Y in MLD. 1 Publication
Corresponds to variant rs199476365 [ dbSNP | Ensembl ].
VAR_007255
Natural varianti153 – 1531Q → H in MLD; late-infantile form; no enzyme residual activity. 1 Publication
Corresponds to variant rs199476377 [ dbSNP | Ensembl ].
VAR_054176
Natural varianti154 – 1541G → D in MLD. 1 Publication
Corresponds to variant rs74315463 [ dbSNP | Ensembl ].
VAR_007256
Natural varianti155 – 1551P → L in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs74315464 [ dbSNP | Ensembl ].
VAR_054177
Natural varianti155 – 1551P → R in MLD.
Corresponds to variant rs74315464 [ dbSNP | Ensembl ].
VAR_007257
Natural varianti156 – 1561C → R in MLD; adult type; enzyme activity reduced to 50% of wild-type enzyme. 1 Publication
Corresponds to variant rs199476348 [ dbSNP | Ensembl ].
VAR_054178
Natural varianti167 – 1671P → R in MLD.
Corresponds to variant rs74315465 [ dbSNP | Ensembl ].
VAR_007258
Natural varianti169 – 1691D → N in MLD.
Corresponds to variant rs74315466 [ dbSNP | Ensembl ].
VAR_007259
Natural varianti172 – 1721C → Y in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs199476381 [ dbSNP | Ensembl ].
VAR_007260
Natural varianti179 – 1791I → S in MLD; mild. 5 Publications
Corresponds to variant rs74315457 [ dbSNP | Ensembl ].
VAR_007261
Natural varianti181 – 1811L → Q in MLD; infantile form. 1 Publication
Corresponds to variant rs199476378 [ dbSNP | Ensembl ].
VAR_054179
Natural varianti190 – 1901Q → H in MLD; no enzyme residual activity. 1 Publication
Corresponds to variant rs199476372 [ dbSNP | Ensembl ].
VAR_054180
Natural varianti191 – 1911P → T in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs199476374 [ dbSNP | Ensembl ].
VAR_054181
Natural varianti193 – 1931W → C.6 Publications
Corresponds to variant rs6151415 [ dbSNP | Ensembl ].
VAR_007262
Natural varianti201 – 2011Y → C in MLD; juvenile-onset; results in higly reduced enzyme activity and stability; the mutant enzyme is kept in a prelysosomal compartment. 3 Publications
Corresponds to variant rs199476345 [ dbSNP | Ensembl ].
VAR_007263
Natural varianti212 – 2121A → P in MLD; loss of enzymatic activity. 2 Publications
Corresponds to variant rs199476341 [ dbSNP | Ensembl ].
VAR_054182
Natural varianti212 – 2121A → V in MLD. 3 Publications
Corresponds to variant rs74315467 [ dbSNP | Ensembl ].
VAR_007264
Natural varianti217 – 2171R → H in MLD; enzyme activity reduced to 15.6% of wild-type enzyme. 1 Publication
Corresponds to variant rs148403406 [ dbSNP | Ensembl ].
VAR_054183
Natural varianti219 – 2191F → V in MLD; enzyme activity reduced to less than 1% of normal activity. 1 Publication
Corresponds to variant rs199476383 [ dbSNP | Ensembl ].
VAR_054184
Natural varianti224 – 2241A → V in MLD. 1 Publication
Corresponds to variant rs74315468 [ dbSNP | Ensembl ].
VAR_007265
Natural varianti227 – 2271H → Y in MLD; late-infantile form. 1 Publication
Corresponds to variant rs199476354 [ dbSNP | Ensembl ].
VAR_054185
Natural varianti231 – 2311P → T in MLD.
Corresponds to variant rs74315469 [ dbSNP | Ensembl ].
VAR_007266
Natural varianti244 – 2441R → C in MLD; juvenile-onset.
Corresponds to variant rs74315470 [ dbSNP | Ensembl ].
VAR_007267
Natural varianti244 – 2441R → H in MLD; infantile-onset. 1 Publication
Corresponds to variant rs199476366 [ dbSNP | Ensembl ].
VAR_007268
Natural varianti245 – 2451G → R in MLD; severe. 1 Publication
Corresponds to variant rs74315471 [ dbSNP | Ensembl ].
VAR_007269
Natural varianti247 – 2471F → S in MLD. 2 Publications
Corresponds to variant rs199476384 [ dbSNP | Ensembl ].
VAR_054186
Natural varianti250 – 2501S → Y in MLD; infantile-onset. 1 Publication
Corresponds to variant rs199476367 [ dbSNP | Ensembl ].
VAR_007270
Natural varianti253 – 2531E → K in MLD; late-infantile. 2 Publications
Corresponds to variant rs74315483 [ dbSNP | Ensembl ].
VAR_054187
Natural varianti255 – 2551D → H in MLD; late-infantile form; no enzyme residual activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment. 2 Publications
Corresponds to variant rs80338819 [ dbSNP | Ensembl ].
VAR_054188
Natural varianti274 – 2741T → M in MLD; severe; 35% of normal activity. 3 Publications
Corresponds to variant rs74315472 [ dbSNP | Ensembl ].
VAR_007271
Natural varianti281 – 2811D → Y in MLD. 1 Publication
Corresponds to variant rs199476386 [ dbSNP | Ensembl ].
VAR_054189
Natural varianti282 – 2821N → S in MLD; enzyme activity reduced to 0.6% of wild-type enzyme. 1 Publication
Corresponds to variant rs199476342 [ dbSNP | Ensembl ].
VAR_054190
Natural varianti286 – 2861T → P in MLD; adult type. 1 Publication
Corresponds to variant rs28940894 [ dbSNP | Ensembl ].
VAR_054191
Natural varianti288 – 2881R → C in MLD. 1 Publication
Corresponds to variant rs74315473 [ dbSNP | Ensembl ].
VAR_007272
Natural varianti288 – 2881R → H in MLD; adult form. 1 Publication
Corresponds to variant rs199476355 [ dbSNP | Ensembl ].
VAR_054192
Natural varianti293 – 2931G → D in MLD; late-onset. 1 Publication
Corresponds to variant rs199476387 [ dbSNP | Ensembl ].
VAR_054193
Natural varianti293 – 2931G → S in MLD; adult type; causes a severe reduction of enzyme activity. 1 Publication
Corresponds to variant rs199476349 [ dbSNP | Ensembl ].
VAR_054194
Natural varianti294 – 2941C → Y in MLD; juvenile-onset; causes a severe reduction of enzyme activity. 1 Publication
Corresponds to variant rs199476347 [ dbSNP | Ensembl ].
VAR_054195
Natural varianti295 – 2951S → Y in MLD; severe. 1 Publication
Corresponds to variant rs74315474 [ dbSNP | Ensembl ].
VAR_007273
Natural varianti298 – 2981L → S in MLD; late-infantile form; complete loss of enzyme activity. 1 Publication
Corresponds to variant rs199476389 [ dbSNP | Ensembl ].
VAR_054196
Natural varianti300 – 3001C → F in MLD; late-infantile-onset; enzyme activity reduced to less than 1%; the mutant protein is more rapidly degraded in lysosomes; strongly interferes with the octamerization process of the enzyme at low pH. 3 Publications
Corresponds to variant rs74315484 [ dbSNP | Ensembl ].
VAR_008132
Natural varianti302 – 3021K → N in MLD; enzyme activity reduced to 2.8% of wild-type enzyme. 1 Publication
Corresponds to variant rs199476343 [ dbSNP | Ensembl ].
VAR_054197
Natural varianti304 – 3041T → M in MLD; loss of enzymatic activity. 1 Publication
Corresponds to variant rs199476359 [ dbSNP | Ensembl ].
VAR_067416
Natural varianti306 – 3061Y → H in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs199476379 [ dbSNP | Ensembl ].
VAR_054198
Natural varianti307 – 3071E → K in MLD; loss of enzymatic activity. 1 Publication
Corresponds to variant rs199476360 [ dbSNP | Ensembl ].
VAR_067417
Natural varianti308 – 3081G → D in MLD; late-infantile form. 1 Publication
Corresponds to variant rs199476356 [ dbSNP | Ensembl ].
VAR_054199
Natural varianti308 – 3081G → V in MLD; late-infantile form; no enzyme residual activity. 1 Publication
Corresponds to variant rs199476356 [ dbSNP | Ensembl ].
VAR_054200
Natural varianti309 – 3091G → S in MLD; severe; 13% of normal activity. 2 Publications
Corresponds to variant rs74315459 [ dbSNP | Ensembl ].
VAR_007274
Natural varianti311 – 3111R → Q in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs199476382 [ dbSNP | Ensembl ].
VAR_007275
Natural varianti312 – 3121E → D in MLD; low amounts of residual enzyme activity; leads to a decreased stability of the mutant enzyme. 1 Publication
Corresponds to variant rs199476390 [ dbSNP | Ensembl ].
VAR_054201
Natural varianti314 – 3141A → T in MLD; infantile-onset. 1 Publication
Corresponds to variant rs199476368 [ dbSNP | Ensembl ].
VAR_007276
Natural varianti325 – 3251G → S in MLD; juvenile-onset. 1 Publication
Corresponds to variant rs148092995 [ dbSNP | Ensembl ].
VAR_054202
Natural varianti327 – 3271T → I in MLD; late-infantile form. 1 Publication
VAR_054203
Natural varianti335 – 3351D → V in MLD; late-infantile-onset; loss of enzymatic activity. 5 Publications
Corresponds to variant rs74315475 [ dbSNP | Ensembl ].
VAR_007277
Natural varianti350 – 3501N → S Associated with arylsulfatase A pseudodeficiency; appears to be responsible for the small size of the enzyme produced by pseudodeficiency fibroblasts because it leads to loss of an N-glycosylation site. 5 Publications
Corresponds to variant rs2071421 [ dbSNP | Ensembl ].
VAR_007278
Natural varianti356 – 3561F → V.1 Publication
Corresponds to variant rs6151422 [ dbSNP | Ensembl ].
VAR_018838
Natural varianti367 – 3671K → N in MLD. 1 Publication
Corresponds to variant rs199476369 [ dbSNP | Ensembl ].
VAR_007279
Natural varianti370 – 3701R → Q in MLD; mild.
Corresponds to variant rs74315477 [ dbSNP | Ensembl ].
VAR_007280
Natural varianti370 – 3701R → W in MLD; severe; no enzyme residual activity. 2 Publications
Corresponds to variant rs74315476 [ dbSNP | Ensembl ].
VAR_007281
Natural varianti376 – 3761Y → N in MLD; enzyme activity reduced to 4.7% of wild-type enzyme. 1 Publication
Corresponds to variant rs199476344 [ dbSNP | Ensembl ].
VAR_054204
Natural varianti377 – 3771P → L in MLD; severe. 1 Publication
Corresponds to variant rs74315478 [ dbSNP | Ensembl ].
VAR_007282
Natural varianti381 – 3811D → E in MLD; early-infantile form. 1 Publication
Corresponds to variant rs6151425 [ dbSNP | Ensembl ].
VAR_054205
Natural varianti382 – 3821E → K in MLD; intermediate. 1 Publication
Corresponds to variant rs74315479 [ dbSNP | Ensembl ].
VAR_007283
Natural varianti384 – 3841R → C in MLD. 1 Publication
Corresponds to variant rs199476370 [ dbSNP | Ensembl ].
VAR_007284
Natural varianti390 – 3901R → Q in MLD; juvenile-onset. 2 Publications
Corresponds to variant rs199476391 [ dbSNP | Ensembl ].
VAR_007285
Natural varianti390 – 3901R → W in MLD; late-infantile and juvenile-onset. 3 Publications
Corresponds to variant rs74315480 [ dbSNP | Ensembl ].
VAR_007286
Natural varianti391 – 3911T → S.10 Publications
Corresponds to variant rs743616 [ dbSNP | Ensembl ].
VAR_007287
Natural varianti397 – 3971H → Y in MLD; adult-onset. 3 Publications
Corresponds to variant rs199476376 [ dbSNP | Ensembl ].
VAR_007288
Natural varianti398 – 3981Missing in MLD.
VAR_007289
Natural varianti406 – 4083Missing in MLD; late-infantile-onset.
VAR_007290
Natural varianti406 – 4061S → G in MLD; loss of enzymatic activity. 1 Publication
Corresponds to variant rs199476361 [ dbSNP | Ensembl ].
VAR_067418
Natural varianti408 – 4081T → I in MLD; adult type. 1 Publication
Corresponds to variant rs28940895 [ dbSNP | Ensembl ].
VAR_054206
Natural varianti409 – 4091T → I in MLD; mild. 2 Publications
Corresponds to variant rs74315481 [ dbSNP | Ensembl ].
VAR_054207
Natural varianti425 – 4251P → T in MLD; juvenile-onset; retains about 12% of specific enzyme activity; the mutant protein is unstable; results in more rapid enzyme degradation in lysosomes; addition of the cysteine protease inhibitor leupeptin increases the amount of the enzyme activity; displays a modest reduction in the octamerization process of the enzyme at low pH. 3 Publications
Corresponds to variant rs74315485 [ dbSNP | Ensembl ].
VAR_008133
Natural varianti426 – 4261P → L in MLD; juvenile/adult-onset; mild; common mutation. 8 Publications