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P14679

- TYRO_HUMAN

UniProt

P14679 - TYRO_HUMAN

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Protein

Tyrosinase

Gene

TYR

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

Functioni

This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone.

Catalytic activityi

2 L-dopa + O2 = 2 dopaquinone + 2 H2O.
L-tyrosine + O2 = dopaquinone + H2O.

Cofactori

Cu2+Note: Binds 2 copper ions per subunit.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi180 – 1801Copper ABy similarity
Metal bindingi202 – 2021Copper ABy similarity
Metal bindingi211 – 2111Copper ABy similarity
Metal bindingi363 – 3631Copper BBy similarity
Metal bindingi367 – 3671Copper BBy similarity
Metal bindingi390 – 3901Copper BBy similarity

GO - Molecular functioni

  1. copper ion binding Source: UniProtKB
  2. monophenol monooxygenase activity Source: UniProtKB
  3. protein heterodimerization activity Source: UniProtKB
  4. protein homodimerization activity Source: UniProtKB

GO - Biological processi

  1. cell proliferation Source: Ensembl
  2. eye pigment biosynthetic process Source: ProtInc
  3. melanin biosynthetic process from tyrosine Source: ProtInc
  4. thymus development Source: Ensembl
  5. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase, Tumor antigen

Keywords - Biological processi

Melanin biosynthesis

Keywords - Ligandi

Copper, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS01248-MONOMER.
SABIO-RKP14679.

Names & Taxonomyi

Protein namesi
Recommended name:
Tyrosinase (EC:1.14.18.1)
Alternative name(s):
LB24-AB
Monophenol monooxygenase
SK29-AB
Tumor rejection antigen AB
Gene namesi
Name:TYR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:12442. TYR.

Subcellular locationi

Melanosome membrane 2 Publications; Single-pass type I membrane protein 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 476458Lumenal, melanosomeSequence AnalysisAdd
BLAST
Transmembranei477 – 49721HelicalSequence AnalysisAdd
BLAST
Topological domaini498 – 52932CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. Golgi-associated vesicle Source: ProtInc
  3. integral component of membrane Source: UniProtKB-KW
  4. lysosome Source: UniProtKB
  5. melanosome Source: UniProtKB
  6. perinuclear region of cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.18 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191H → Q in OCA1A.
VAR_007649
Natural varianti21 – 211P → S in OCA1A. 1 Publication
VAR_007650
Natural varianti36 – 361C → Y in OCA1A. 1 Publication
VAR_021683
Natural varianti42 – 421D → G in OCA1A. 1 Publication
Corresponds to variant rs28940878 [ dbSNP | Ensembl ].
VAR_007651
Natural varianti44 – 441S → G in OCA1A. 1 Publication
VAR_021684
Natural varianti44 – 441S → R in OCA1A. 1 Publication
VAR_021685
Natural varianti47 – 471G → D in OCA1A. 3 Publications
Corresponds to variant rs61753180 [ dbSNP | Ensembl ].
VAR_007652
Natural varianti47 – 471G → V in OCA1A. 1 Publication
VAR_021686
Natural varianti55 – 551C → Y in OCA1A. 2 Publications
Corresponds to variant rs28940879 [ dbSNP | Ensembl ].
VAR_007654
Natural varianti68 – 681Q → H in OCA1A. 1 Publication
VAR_021687
Natural varianti77 – 771R → Q in OCA1A. 3 Publications
Corresponds to variant rs61753185 [ dbSNP | Ensembl ].
VAR_007655
Natural varianti77 – 771R → RR in OCA1A. 1 Publication
VAR_009236
Natural varianti77 – 771R → W in OCA1A. 1 Publication
Corresponds to variant rs61753184 [ dbSNP | Ensembl ].
VAR_007656
Natural varianti79 – 791S → L in OCA1A. 1 Publication
VAR_021688
Natural varianti80 – 801W → R in OCA1A.
VAR_007657
Natural varianti81 – 811P → L in OCA1A. 3 Publications
Corresponds to variant rs28940876 [ dbSNP | Ensembl ].
VAR_007658
Natural varianti89 – 891C → R in OCA1A. 1 Publication
Corresponds to variant rs28940877 [ dbSNP | Ensembl ].
VAR_007659
Natural varianti97 – 971G → R in OCA1A. 1 Publication
VAR_007660
Natural varianti109 – 1091G → R in OCA1A. 1 Publication
VAR_021689
Natural varianti155 – 1551T → S in OCA1A. 1 Publication
VAR_021690
Natural varianti176 – 1761F → I in OCA1A. 1 Publication
VAR_007661
Natural varianti177 – 1771V → F in OCA1A. 1 Publication
Corresponds to variant rs138487695 [ dbSNP | Ensembl ].
VAR_021691
Natural varianti179 – 1791M → L in OCA1A. 1 Publication
VAR_021692
Natural varianti180 – 1801H → N in OCA1A. 1 Publication
VAR_021693
Natural varianti198 – 1981I → T in OCA1A. 1 Publication
VAR_071756
Natural varianti199 – 1991D → N in OCA1A. 1 Publication
VAR_021694
Natural varianti201 – 2011A → S in OCA1A. 1 Publication
VAR_021695
Natural varianti205 – 2051P → T in OCA1A. 1 Publication
Corresponds to variant rs61754362 [ dbSNP | Ensembl ].
VAR_021696
Natural varianti206 – 2061A → T in OCA1A. 1 Publication
Corresponds to variant rs28940880 [ dbSNP | Ensembl ].
VAR_007663
Natural varianti216 – 2161L → M in OCA1A.
VAR_007664
Natural varianti217 – 2171R → G in OCA1A.
VAR_007665
Natural varianti217 – 2171R → Q in OCA1A. 2 Publications
VAR_007667
Natural varianti217 – 2171R → S in OCA1A. 1 Publication
VAR_021697
Natural varianti217 – 2171R → W in OCA1A. 2 Publications
VAR_007666
Natural varianti217 – 2171Missing in OCA1A.
VAR_007926
Natural varianti227 – 2271Missing in OCA1A.
VAR_021698
Natural varianti236 – 2361W → L in OCA1A. 1 Publication
VAR_021699
Natural varianti236 – 2361W → S in OCA1A. 1 Publication
VAR_021700
Natural varianti239 – 2391R → W in OCA1A. 1 Publication
VAR_021701
Natural varianti240 – 2401D → V in OCA1A. 1 Publication
VAR_021702
Natural varianti243 – 2431K → T in OCA1A. 1 Publication
VAR_021703
Natural varianti253 – 2531G → R in OCA1A.
VAR_007668
Natural varianti256 – 2561H → Y in OCA1A. 2 Publications
VAR_021704
Natural varianti272 – 2721W → C in OCA1A. 1 Publication
VAR_021705
Natural varianti288 – 2881L → S in OCA1A.
VAR_007927
Natural varianti289 – 2891C → G in OCA1A. 1 Publication
VAR_009237
Natural varianti289 – 2891C → R in OCA1A. 2 Publications
VAR_007670
Natural varianti294 – 2941E → G in OCA1A. 1 Publication
VAR_021706
Natural varianti294 – 2941E → K in OCA1A and OCA1B. 3 Publications
VAR_007928
Natural varianti299 – 2991R → H in OCA1A. 3 Publications
Corresponds to variant rs61754375 [ dbSNP | Ensembl ].
VAR_007671
Natural varianti299 – 2991R → S in OCA1A. 1 Publication
VAR_007672
Natural varianti318 – 3181V → E in OCA1A. 1 Publication
VAR_021707
Natural varianti328 – 3281E → Q in OCA1A. 1 Publication
VAR_007929
Natural varianti329 – 3291S → P in OCA1A. 1 Publication
VAR_021708
Natural varianti332 – 3321M → T in OCA1A. 1 Publication
VAR_021709
Natural varianti339 – 3391S → G in OCA1A. 1 Publication
VAR_007676
Natural varianti345 – 3451E → G in OCA1A. 1 Publication
VAR_021710
Natural varianti346 – 3461G → E in OCA1A.
VAR_007930
Natural varianti355 – 3551A → E in OCA1A.
VAR_007931
Natural varianti355 – 3551A → P in OCA1A. 3 Publications
VAR_007678
Natural varianti361 – 3611S → R in OCA1A. 1 Publication
VAR_007932
Natural varianti367 – 3671H → Y in OCA1A. 1 Publication
VAR_007933
Natural varianti370 – 3701M → T in OCA1A. 1 Publication
VAR_007934
Natural varianti371 – 3711N → T in OCA1A.
VAR_007679
Natural varianti371 – 3711N → Y in OCA1A. 2 Publications
VAR_007935
Natural varianti373 – 3731T → K in OCA1A. 6 Publications
VAR_007680
Natural varianti378 – 3781Q → K in OCA1A. 1 Publication
VAR_021711
Natural varianti382 – 3821N → K in OCA1A.
VAR_007682
Natural varianti383 – 3831D → N in OCA1A. 3 Publications
VAR_007683
Natural varianti393 – 3931V → F in OCA1A. 1 Publication
VAR_007936
Natural varianti395 – 3951S → N in OCA1A.
VAR_007685
Natural varianti395 – 3951S → R in OCA1A. 1 Publication
VAR_021712
Natural varianti398 – 3981E → A in OCA1A. 1 Publication
VAR_021713
Natural varianti398 – 3981E → V in OCA1A. 1 Publication
VAR_021714
Natural varianti400 – 4001W → L in OCA1A. 1 Publication
VAR_009238
Natural varianti402 – 4021R → L in OCA1A. 1 Publication
VAR_021715
Natural varianti403 – 4031R → S in OCA1A and OCA1B. 3 Publications
VAR_007687
Natural varianti404 – 4041H → N in OCA1A. 1 Publication
VAR_021716
Natural varianti405 – 4051R → L in OCA1A. 1 Publication
VAR_021717
Natural varianti406 – 4061P → L in OCA1A and OCA1B. 3 Publications
VAR_007689
Natural varianti408 – 4081Q → H in OCA1A. 1 Publication
VAR_021718
Natural varianti409 – 4091E → D in OCA1A. 1 Publication
VAR_021719
Natural varianti416 – 4161A → S in OCA1A. 1 Publication
VAR_021720
Natural varianti417 – 4171P → H in OCA1A. 1 Publication
VAR_021721
Natural varianti419 – 4191G → R in OCA1A. 4 Publications
VAR_007690
Natural varianti422 – 4221R → Q in OCA1A and OCA1B; temperature sensitive variant. 3 Publications
VAR_007691
Natural varianti424 – 4241S → F in OCA1A. 1 Publication
VAR_021722
Natural varianti426 – 4261M → K in OCA1A. 1 Publication
VAR_021723
Natural varianti427 – 4271V → G in OCA1A. 1 Publication
VAR_021724
Natural varianti431 – 4311P → L in OCA1A. 1 Publication
VAR_007938
Natural varianti434 – 4341R → I in OCA1A. 1 Publication
VAR_021725
Natural varianti435 – 4351N → D in OCA1A. 1 Publication
VAR_021726
Natural varianti439 – 4391F → V in OCA1A. 1 Publication
VAR_021727
Natural varianti444 – 4441D → G in OCA1A. 1 Publication
VAR_021728
Natural varianti446 – 4461G → S in OCA1A. 3 Publications
VAR_007692
Natural varianti448 – 4481D → N in OCA1A. 3 Publications
VAR_007693
Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti152 – 1521P → S in OCA1B. 1 Publication
VAR_007925
Natural varianti275 – 2751V → F in OCA1B. 2 Publications
Corresponds to variant rs104894314 [ dbSNP | Ensembl ].
VAR_007669
Natural varianti294 – 2941E → K in OCA1A and OCA1B. 3 Publications
VAR_007928
Natural varianti325 – 3251T → A in OCA1B.
VAR_007675
Natural varianti380 – 3801S → P in OCA1B.
VAR_007681
Natural varianti390 – 3901H → D in OCA1B.
VAR_007684
Natural varianti402 – 4021R → G in OCA1B.
VAR_007937
Natural varianti403 – 4031R → S in OCA1A and OCA1B. 3 Publications
VAR_007687
Natural varianti406 – 4061P → L in OCA1A and OCA1B. 3 Publications
VAR_007689
Natural varianti422 – 4221R → Q in OCA1A and OCA1B; temperature sensitive variant. 3 Publications
VAR_007691

Keywords - Diseasei

Albinism, Deafness, Disease mutation, Waardenburg syndrome

Organism-specific databases

MIMi103470. phenotype.
203100. phenotype.
601800. phenotype.
606952. phenotype.
Orphaneti352734. Minimal pigment oculocutaneous albinism type 1.
352740. Ocular albinism with congenital sensorineural deafness.
79431. Oculocutaneous albinism type 1A.
79434. Oculocutaneous albinism type 1B.
352737. Temperature-sensitive oculocutaneous albinism type 1.
PharmGKBiPA37095.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence AnalysisAdd
BLAST
Chaini19 – 529511TyrosinasePRO_0000035879Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi86 – 861N-linked (GlcNAc...)Sequence Analysis
Glycosylationi111 – 1111N-linked (GlcNAc...)Sequence Analysis
Glycosylationi161 – 1611N-linked (GlcNAc...)Sequence Analysis
Glycosylationi230 – 2301N-linked (GlcNAc...)Sequence Analysis
Glycosylationi337 – 3371N-linked (GlcNAc...)Sequence Analysis
Glycosylationi371 – 3711N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP14679.
PRIDEiP14679.

PTM databases

PhosphoSiteiP14679.

Expressioni

Inductioni

Increased expression after UVB irradiation.

Gene expression databases

BgeeiP14679.
CleanExiHS_TYR.
ExpressionAtlasiP14679. baseline.
GenevestigatoriP14679.

Organism-specific databases

HPAiCAB000079.

Interactioni

Protein-protein interaction databases

BioGridi113150. 2 interactions.
STRINGi9606.ENSP00000263321.

Structurei

3D structure databases

ProteinModelPortaliP14679.
SMRiP14679. Positions 172-449.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the tyrosinase family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG08919.
GeneTreeiENSGT00500000044790.
HOVERGENiHBG003553.
InParanoidiP14679.
KOiK00505.
OMAiCLSLTQY.
OrthoDBiEOG7TJ3HG.
PhylomeDBiP14679.
TreeFamiTF315865.

Family and domain databases

Gene3Di1.10.1280.10. 1 hit.
InterProiIPR002227. Tyrosinase_Cu-bd.
IPR008922. Unchr_di-copper_centre.
[Graphical view]
PfamiPF00264. Tyrosinase. 1 hit.
[Graphical view]
PRINTSiPR00092. TYROSINASE.
SUPFAMiSSF48056. SSF48056. 1 hit.
PROSITEiPS00497. TYROSINASE_1. 1 hit.
PS00498. TYROSINASE_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: P14679-1) [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

        10         20         30         40         50
MLLAVLYCLL WSFQTSAGHF PRACVSSKNL MEKECCPPWS GDRSPCGQLS
60 70 80 90 100
GRGSCQNILL SNAPLGPQFP FTGVDDRESW PSVFYNRTCQ CSGNFMGFNC
110 120 130 140 150
GNCKFGFWGP NCTERRLLVR RNIFDLSAPE KDKFFAYLTL AKHTISSDYV
160 170 180 190 200
IPIGTYGQMK NGSTPMFNDI NIYDLFVWMH YYVSMDALLG GSEIWRDIDF
210 220 230 240 250
AHEAPAFLPW HRLFLLRWEQ EIQKLTGDEN FTIPYWDWRD AEKCDICTDE
260 270 280 290 300
YMGGQHPTNP NLLSPASFFS SWQIVCSRLE EYNSHQSLCN GTPEGPLRRN
310 320 330 340 350
PGNHDKSRTP RLPSSADVEF CLSLTQYESG SMDKAANFSF RNTLEGFASP
360 370 380 390 400
LTGIADASQS SMHNALHIYM NGTMSQVQGS ANDPIFLLHH AFVDSIFEQW
410 420 430 440 450
LRRHRPLQEV YPEANAPIGH NRESYMVPFI PLYRNGDFFI SSKDLGYDYS
460 470 480 490 500
YLQDSDPDSF QDYIKSYLEQ ASRIWSWLLG AAMVGAVLTA LLAGLVSLLC
510 520
RHKRKQLPEE KQPLLMEKED YHSLYQSHL
Length:529
Mass (Da):60,393
Last modified:July 1, 1993 - v3
Checksum:i67211A91608A59E1
GO
Isoform 2 (identifier: P14679-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     346-377: GFASPLTGIADASQSSMHNALHIYMNGTMSQV → EMGFLHVGWAGLKLLTSRDPPPWPPKMLGLQA
     378-529: Missing.

Note: No experimental confirmation available.

Show »
Length:377
Mass (Da):42,914
Checksum:iE4E415B71C60359B
GO

Sequence cautioni

The sequence AAA61241.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAA68756.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti42 – 454DRSP → TGV in AAA61241. (PubMed:2823263)Curated
Sequence conflicti179 – 1791M → I in CAA68756. (PubMed:2499655)Curated
Sequence conflicti373 – 3786TMSQVQ → HVPGT in AAA61241. (PubMed:2823263)Curated
Sequence conflicti495 – 4951L → P in AAA61241. (PubMed:2823263)Curated
Sequence conflicti495 – 4951L → P in AAA61244. (PubMed:2823263)Curated
Sequence conflicti520 – 5234DYHS → GLPQ(PubMed:2823263)Curated
Sequence conflicti525 – 5284YQSH → VSEPFIKGLGNRVGPKSPDL TLTQSNVQVPENICWYFL(PubMed:2823263)Curated

Polymorphismi

Genetic variants in TYR define the skin/hair/eye pigmentation variation locus 3 (SHEP3) [MIMi:601800]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.
Compound heterozygosity for the R402Q polymorphism and a mutant allele of TYR is a common cause of autosomal recessive ocular albinism. The R402Q polymorphism is also found in Waardenburg syndrome type II with ocular albinism (WS2-OA) in association with a deletion in the MITF gene.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191H → Q in OCA1A.
VAR_007649
Natural varianti21 – 211P → S in OCA1A. 1 Publication
VAR_007650
Natural varianti36 – 361C → Y in OCA1A. 1 Publication
VAR_021683
Natural varianti42 – 421D → G in OCA1A. 1 Publication
Corresponds to variant rs28940878 [ dbSNP | Ensembl ].
VAR_007651
Natural varianti44 – 441S → G in OCA1A. 1 Publication
VAR_021684
Natural varianti44 – 441S → R in OCA1A. 1 Publication
VAR_021685
Natural varianti47 – 471G → D in OCA1A. 3 Publications
Corresponds to variant rs61753180 [ dbSNP | Ensembl ].
VAR_007652
Natural varianti47 – 471G → V in OCA1A. 1 Publication
VAR_021686
Natural varianti52 – 521R → I in OCA1.
VAR_007653
Natural varianti55 – 551C → Y in OCA1A. 2 Publications
Corresponds to variant rs28940879 [ dbSNP | Ensembl ].
VAR_007654
Natural varianti68 – 681Q → H in OCA1A. 1 Publication
VAR_021687
Natural varianti77 – 771R → Q in OCA1A. 3 Publications
Corresponds to variant rs61753185 [ dbSNP | Ensembl ].
VAR_007655
Natural varianti77 – 771R → RR in OCA1A. 1 Publication
VAR_009236
Natural varianti77 – 771R → W in OCA1A. 1 Publication
Corresponds to variant rs61753184 [ dbSNP | Ensembl ].
VAR_007656
Natural varianti79 – 791S → L in OCA1A. 1 Publication
VAR_021688
Natural varianti80 – 801W → R in OCA1A.
VAR_007657
Natural varianti81 – 811P → L in OCA1A. 3 Publications
Corresponds to variant rs28940876 [ dbSNP | Ensembl ].
VAR_007658
Natural varianti89 – 891C → R in OCA1A. 1 Publication
Corresponds to variant rs28940877 [ dbSNP | Ensembl ].
VAR_007659
Natural varianti97 – 971G → R in OCA1A. 1 Publication
VAR_007660
Natural varianti109 – 1091G → R in OCA1A. 1 Publication
VAR_021689
Natural varianti134 – 1341F → C.
Corresponds to variant rs33955261 [ dbSNP | Ensembl ].
VAR_034576
Natural varianti142 – 1421K → N.
Corresponds to variant rs11545463 [ dbSNP | Ensembl ].
VAR_042665
Natural varianti152 – 1521P → S in OCA1B. 1 Publication
VAR_007925
Natural varianti155 – 1551T → S in OCA1A. 1 Publication
VAR_021690
Natural varianti176 – 1761F → I in OCA1A. 1 Publication
VAR_007661
Natural varianti177 – 1771V → F in OCA1A. 1 Publication
Corresponds to variant rs138487695 [ dbSNP | Ensembl ].
VAR_021691
Natural varianti179 – 1791M → L in OCA1A. 1 Publication
VAR_021692
Natural varianti180 – 1801H → N in OCA1A. 1 Publication
VAR_021693
Natural varianti192 – 1921S → Y Associated with SHEP3; light/dark skin. 7 Publications
Corresponds to variant rs1042602 [ dbSNP | Ensembl ].
VAR_007662
Natural varianti198 – 1981I → T in OCA1A. 1 Publication
VAR_071756
Natural varianti199 – 1991D → N in OCA1A. 1 Publication
VAR_021694
Natural varianti201 – 2011A → S in OCA1A. 1 Publication
VAR_021695
Natural varianti205 – 2051P → T in OCA1A. 1 Publication
Corresponds to variant rs61754362 [ dbSNP | Ensembl ].
VAR_021696
Natural varianti206 – 2061A → T in OCA1A. 1 Publication
Corresponds to variant rs28940880 [ dbSNP | Ensembl ].
VAR_007663
Natural varianti216 – 2161L → M in OCA1A.
VAR_007664
Natural varianti217 – 2171R → G in OCA1A.
VAR_007665
Natural varianti217 – 2171R → Q in OCA1A. 2 Publications
VAR_007667
Natural varianti217 – 2171R → S in OCA1A. 1 Publication
VAR_021697
Natural varianti217 – 2171R → W in OCA1A. 2 Publications
VAR_007666
Natural varianti217 – 2171Missing in OCA1A.
VAR_007926
Natural varianti227 – 2271Missing in OCA1A.
VAR_021698
Natural varianti236 – 2361W → L in OCA1A. 1 Publication
VAR_021699
Natural varianti236 – 2361W → S in OCA1A. 1 Publication
VAR_021700
Natural varianti239 – 2391R → W in OCA1A. 1 Publication
VAR_021701
Natural varianti240 – 2401D → V in OCA1A. 1 Publication
VAR_021702
Natural varianti243 – 2431K → T in OCA1A. 1 Publication
VAR_021703
Natural varianti253 – 2531G → R in OCA1A.
VAR_007668
Natural varianti256 – 2561H → Y in OCA1A. 2 Publications
VAR_021704
Natural varianti272 – 2721W → C in OCA1A. 1 Publication
VAR_021705
Natural varianti275 – 2751V → F in OCA1B. 2 Publications
Corresponds to variant rs104894314 [ dbSNP | Ensembl ].
VAR_007669
Natural varianti288 – 2881L → S in OCA1A.
VAR_007927
Natural varianti289 – 2891C → G in OCA1A. 1 Publication
VAR_009237
Natural varianti289 – 2891C → R in OCA1A. 2 Publications
VAR_007670
Natural varianti294 – 2941E → G in OCA1A. 1 Publication
VAR_021706
Natural varianti294 – 2941E → K in OCA1A and OCA1B. 3 Publications
VAR_007928
Natural varianti299 – 2991R → H in OCA1A. 3 Publications
Corresponds to variant rs61754375 [ dbSNP | Ensembl ].
VAR_007671
Natural varianti299 – 2991R → S in OCA1A. 1 Publication
VAR_007672
Natural varianti308 – 3081R → T.
Corresponds to variant rs1042608 [ dbSNP | Ensembl ].
VAR_011825
Natural varianti312 – 3121L → V in OCA1.
VAR_007673
Natural varianti313 – 3131P → R in OCA1.
VAR_007674
Natural varianti318 – 3181V → E in OCA1A. 1 Publication
VAR_021707
Natural varianti325 – 3251T → A in OCA1B.
VAR_007675
Natural varianti328 – 3281E → Q in OCA1A. 1 Publication
VAR_007929
Natural varianti329 – 3291S → P in OCA1A. 1 Publication
VAR_021708
Natural varianti332 – 3321M → T in OCA1A. 1 Publication
VAR_021709
Natural varianti339 – 3391S → G in OCA1A. 1 Publication
VAR_007676
Natural varianti340 – 3401F → L in OCA1.
VAR_007677
Natural varianti345 – 3451E → G in OCA1A. 1 Publication
VAR_021710
Natural varianti346 – 3461G → E in OCA1A.
VAR_007930
Natural varianti355 – 3551A → E in OCA1A.
VAR_007931
Natural varianti355 – 3551A → P in OCA1A. 3 Publications
VAR_007678
Natural varianti361 – 3611S → R in OCA1A. 1 Publication
VAR_007932
Natural varianti367 – 3671H → Y in OCA1A. 1 Publication
VAR_007933
Natural varianti370 – 3701M → T in OCA1A. 1 Publication
VAR_007934
Natural varianti371 – 3711N → T in OCA1A.
VAR_007679
Natural varianti371 – 3711N → Y in OCA1A. 2 Publications
VAR_007935
Natural varianti373 – 3731T → K in OCA1A. 6 Publications
VAR_007680
Natural varianti378 – 3781Q → K in OCA1A. 1 Publication
VAR_021711
Natural varianti380 – 3801S → P in OCA1B.
VAR_007681
Natural varianti382 – 3821N → K in OCA1A.
VAR_007682
Natural varianti383 – 3831D → N in OCA1A. 3 Publications
VAR_007683
Natural varianti390 – 3901H → D in OCA1B.
VAR_007684
Natural varianti393 – 3931V → F in OCA1A. 1 Publication
VAR_007936
Natural varianti395 – 3951S → N in OCA1A.
VAR_007685
Natural varianti395 – 3951S → R in OCA1A. 1 Publication
VAR_021712
Natural varianti398 – 3981E → A in OCA1A. 1 Publication
VAR_021713
Natural varianti398 – 3981E → V in OCA1A. 1 Publication
VAR_021714
Natural varianti400 – 4001W → L in OCA1A. 1 Publication
VAR_009238
Natural varianti402 – 4021R → G in OCA1B.
VAR_007937
Natural varianti402 – 4021R → L in OCA1A. 1 Publication
VAR_021715
Natural varianti402 – 4021R → Q.5 Publications
Corresponds to variant rs1126809 [ dbSNP | Ensembl ].
VAR_007686
Natural varianti403 – 4031R → S in OCA1A and OCA1B. 3 Publications
VAR_007687
Natural varianti404 – 4041H → N in OCA1A. 1 Publication
VAR_021716
Natural varianti404 – 4041H → P in OCA-I.
VAR_007688
Natural varianti405 – 4051R → L in OCA1A. 1 Publication
VAR_021717
Natural varianti406 – 4061P → L in OCA1A and OCA1B. 3 Publications
VAR_007689
Natural varianti408 – 4081Q → H in OCA1A. 1 Publication
VAR_021718
Natural varianti409 – 4091E → D in OCA1A. 1 Publication
VAR_021719
Natural varianti416 – 4161A → S in OCA1A. 1 Publication
VAR_021720
Natural varianti417 – 4171P → H in OCA1A. 1 Publication
VAR_021721
Natural varianti419 – 4191G → R in OCA1A. 4 Publications
VAR_007690
Natural varianti422 – 4221R → Q in OCA1A and OCA1B; temperature sensitive variant. 3 Publications
VAR_007691
Natural varianti424 – 4241S → F in OCA1A. 1 Publication
VAR_021722
Natural varianti426 – 4261M → K in OCA1A. 1 Publication
VAR_021723
Natural varianti427 – 4271V → G in OCA1A. 1 Publication
VAR_021724
Natural varianti431 – 4311P → L in OCA1A. 1 Publication
VAR_007938
Natural varianti434 – 4341R → I in OCA1A. 1 Publication
VAR_021725
Natural varianti435 – 4351N → D in OCA1A. 1 Publication
VAR_021726
Natural varianti439 – 4391F → V in OCA1A. 1 Publication
VAR_021727
Natural varianti444 – 4441D → G in OCA1A. 1 Publication
VAR_021728
Natural varianti446 – 4461G → S in OCA1A. 3 Publications
VAR_007692
Natural varianti448 – 4481D → N in OCA1A. 3 Publications
VAR_007693

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei346 – 37732GFASP…TMSQV → EMGFLHVGWAGLKLLTSRDP PPWPPKMLGLQA in isoform 2. 1 PublicationVSP_006701Add
BLAST
Alternative sequencei378 – 529152Missing in isoform 2. 1 PublicationVSP_006702Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M27160 mRNA. Translation: AAB37227.1.
M63239
, M63235, M63236, M63237, M63238 Genomic DNA. Translation: AAA61242.1.
J03581 mRNA. Translation: AAA61241.1. Different initiation.
Y00819 mRNA. Translation: CAA68756.1. Different initiation.
U01873 mRNA. Translation: AAB60319.1. Sequence problems.
M74314 mRNA. Translation: AAA61244.1.
X16073 Genomic DNA. Translation: CAA34205.1.
AF237811
, AF237807, AF237808, AF237809, AF237810 Genomic DNA. Translation: AAK00805.1.
BC027179 mRNA. Translation: AAH27179.1.
AY012019 Genomic DNA. Translation: AAG38762.1.
CCDSiCCDS8284.1. [P14679-1]
PIRiA38444. YRHU1.
RefSeqiNP_000363.1. NM_000372.4. [P14679-1]
UniGeneiHs.503555.

Genome annotation databases

EnsembliENST00000263321; ENSP00000263321; ENSG00000077498. [P14679-1]
GeneIDi7299.
KEGGihsa:7299.
UCSCiuc001pcs.3. human. [P14679-1]

Polymorphism databases

DMDMi401235.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the TYR gene

Retina International's Scientific Newsletter

Albinism database (ADB)

TYR mutations

Protein Spotlight

Snowy stardom - Issue 49 of August 2004

Wikipedia

Tyrosinase entry

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M27160 mRNA. Translation: AAB37227.1 .
M63239
, M63235 , M63236 , M63237 , M63238 Genomic DNA. Translation: AAA61242.1 .
J03581 mRNA. Translation: AAA61241.1 . Different initiation.
Y00819 mRNA. Translation: CAA68756.1 . Different initiation.
U01873 mRNA. Translation: AAB60319.1 . Sequence problems.
M74314 mRNA. Translation: AAA61244.1 .
X16073 Genomic DNA. Translation: CAA34205.1 .
AF237811
, AF237807 , AF237808 , AF237809 , AF237810 Genomic DNA. Translation: AAK00805.1 .
BC027179 mRNA. Translation: AAH27179.1 .
AY012019 Genomic DNA. Translation: AAG38762.1 .
CCDSi CCDS8284.1. [P14679-1 ]
PIRi A38444. YRHU1.
RefSeqi NP_000363.1. NM_000372.4. [P14679-1 ]
UniGenei Hs.503555.

3D structure databases

ProteinModelPortali P14679.
SMRi P14679. Positions 172-449.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113150. 2 interactions.
STRINGi 9606.ENSP00000263321.

Chemistry

BindingDBi P14679.
ChEMBLi CHEMBL1973.
DrugBanki DB00548. Azelaic Acid.
DB01055. Mimosine.
DB00600. Monobenzone.
GuidetoPHARMACOLOGYi 2643.

PTM databases

PhosphoSitei P14679.

Polymorphism databases

DMDMi 401235.

Proteomic databases

PaxDbi P14679.
PRIDEi P14679.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263321 ; ENSP00000263321 ; ENSG00000077498 . [P14679-1 ]
GeneIDi 7299.
KEGGi hsa:7299.
UCSCi uc001pcs.3. human. [P14679-1 ]

Organism-specific databases

CTDi 7299.
GeneCardsi GC11P088911.
GeneReviewsi TYR.
HGNCi HGNC:12442. TYR.
HPAi CAB000079.
MIMi 103470. phenotype.
203100. phenotype.
601800. phenotype.
606933. gene.
606952. phenotype.
neXtProti NX_P14679.
Orphaneti 352734. Minimal pigment oculocutaneous albinism type 1.
352740. Ocular albinism with congenital sensorineural deafness.
79431. Oculocutaneous albinism type 1A.
79434. Oculocutaneous albinism type 1B.
352737. Temperature-sensitive oculocutaneous albinism type 1.
PharmGKBi PA37095.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG08919.
GeneTreei ENSGT00500000044790.
HOVERGENi HBG003553.
InParanoidi P14679.
KOi K00505.
OMAi CLSLTQY.
OrthoDBi EOG7TJ3HG.
PhylomeDBi P14679.
TreeFami TF315865.

Enzyme and pathway databases

BioCyci MetaCyc:HS01248-MONOMER.
SABIO-RK P14679.

Miscellaneous databases

GeneWikii Tyrosinase.
GenomeRNAii 7299.
NextBioi 28547.
PROi P14679.
SOURCEi Search...

Gene expression databases

Bgeei P14679.
CleanExi HS_TYR.
ExpressionAtlasi P14679. baseline.
Genevestigatori P14679.

Family and domain databases

Gene3Di 1.10.1280.10. 1 hit.
InterProi IPR002227. Tyrosinase_Cu-bd.
IPR008922. Unchr_di-copper_centre.
[Graphical view ]
Pfami PF00264. Tyrosinase. 1 hit.
[Graphical view ]
PRINTSi PR00092. TYROSINASE.
SUPFAMi SSF48056. SSF48056. 1 hit.
PROSITEi PS00497. TYROSINASE_1. 1 hit.
PS00498. TYROSINASE_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment."
    Giebel L.B., Strunk K.M., Spritz R.A.
    Genomics 9:435-445(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
  2. "Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus."
    Kwon B.S., Haq A.K., Pomerantz S.H., Halaban R.
    Proc. Natl. Acad. Sci. U.S.A. 84:7473-7477(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. Erratum
    Kwon B.S., Haq A.K., Pomerantz S.H., Halaban R.
    Proc. Natl. Acad. Sci. U.S.A. 85:6352-6352(1988)
    Cited for: SEQUENCE REVISION TO 384-398.
  4. "Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA."
    Bouchard B., Fuller B.B., Vijayasaradhi S., Houghton A.N.
    J. Exp. Med. 169:2029-2042(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Melanoma.
  5. "A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism."
    Chintamaneni C.D., Halaban R., Kobayashi Y., Witkop C.J., Kwon B.S.
    Proc. Natl. Acad. Sci. U.S.A. 88:5272-5276(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  6. "The tyrosinase gene codes for an antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas."
    Brichard V., van Pel A., Woelfel T., Woelfel C., de Plaen E., Lethe B.G., Coulie P., Boon T.
    J. Exp. Med. 178:489-495(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 1).
    Tissue: Melanoma and T-cell.
  7. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT TYR-192.
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Skin.
  9. "Characteristic sequences in the upstream region of the human tyrosinase gene."
    Kikuchi H., Miura H., Yamamoto H., Takeuchi T., Dei T., Watanabe M.
    Biochim. Biophys. Acta 1009:283-286(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-272.
    Tissue: Liver.
  10. "Functional analysis of the cDNA encoding human tyrosinase precursor."
    Takeda A., Tomita Y., Okinaga S., Tagami H., Shibahara S.
    Biochem. Biophys. Res. Commun. 162:984-990(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-32.
  11. "Molecular phylogenetics and the origins of placental mammals."
    Murphy W.J., Eizirik E., Johnson W.E., Zhang Y.-P., Ryder O.A., O'Brien S.J.
    Nature 409:614-618(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 54-195, VARIANT TYR-192.
  12. "Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene."
    Oetting W.S., King R.A.
    Hum. Mutat. 2:1-6(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON OCA VARIANTS.
  13. "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism."
    Oetting W.S., King R.A.
    Hum. Mutat. 13:99-115(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON OCA1 VARIANTS.
  14. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Melanoma.
  15. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Melanoma.
  16. "Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism."
    Spritz R.A., Strunk K.M., Giebel L.B., King R.A.
    N. Engl. J. Med. 322:1724-1728(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OCA1A LYS-373 AND ASN-383, VARIANTS TYR-192 AND GLN-402.
  17. "A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism."
    Giebel L.B., Strunk K.M., King R.A., Hanifin J.M., Spritz R.A.
    Proc. Natl. Acad. Sci. U.S.A. 87:3255-3258(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OCA1A LEU-81.
  18. "Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism."
    Giebel L.B., Tripathi R.K., Strunk K.M., Hanifin J.M., Jackson C.E., King R.A., Spritz R.A.
    Am. J. Hum. Genet. 48:1159-1167(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OCA1B PHE-275 AND LEU-406.
  19. Erratum
    Giebel L.B., Tripathi R.K., Strunk K.M., Hanifin J.M., Jackson C.E., King R.A., Spritz R.A.
    Am. J. Hum. Genet. 49:696-696(1991)
  20. "Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions."
    Tripathi R.K., Strunk K.M., Giebel L.B., Weleber R.G., Spritz R.A.
    Am. J. Med. Genet. 43:865-871(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OCA1A SER-21; TRP-217; HIS-299; SER-403; SER-446 AND ASN-448.
  21. "Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism."
    Spritz R.A., Strunk K.M., Hsieh C.-L., Sekhon G.S., Francke U.
    Am. J. Hum. Genet. 48:318-324(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OCA1A ARG-89.
  22. "A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse."
    Giebel L.B., Tripathi R.K., King R.A., Spritz R.A.
    J. Clin. Invest. 87:1119-1122(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OCA1B GLN-422.
  23. "Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism."
    King R.A., Mentink M.M., Oetting W.S.
    Mol. Biol. Med. 8:19-29(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OCA1A GLY-42; TYR-55; THR-206 AND ARG-419.
  24. "Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism."
    Oetting W.S., King R.A.
    Hum. Genet. 90:258-262(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OCA1A ILE-176 AND GLN-217.
  25. "Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA)."
    Tripathi R.K., Bundey S., Musarella M.A., Droetto S., Strunk K.M., Holmes S.A., Spritz R.A.
    Am. J. Hum. Genet. 53:1173-1179(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OCA1A GLN-328; ARG-419 AND LEU-431.
  26. "Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel."
    Gershoni-Baruch R., Rosenmann A., Droetto S., Holmes S.A., Tripathi R.K., Spritz R.A.
    Am. J. Hum. Genet. 54:586-594(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OCA1A ASP-47; CYS-217 DEL; HIS-299 AND LYS-373, VARIANTS OCA1B SER-152 AND LYS-294.
  27. "Initiation codon mutation of the tyrosinase gene as a cause of human albinism."
    Breimer L.H., Winder A.F., Jay B., Jay M.
    Clin. Chim. Acta 227:17-22(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OCA1A TYR-367; THR-370 AND LYS-373, VARIANT GLN-402.
  28. "Diagnosis of oculocutaneous albinism with molecular analysis."
    Summers C.G., Oetting W.S., King R.A.
    Am. J. Ophthalmol. 121:724-726(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OCA1A ARG-361 AND TYR-371.
  29. "Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)."
    Morell R., Spritz R.A., Ho L., Pierpont J., Guo W., Friedman T.B., Asher J.H. Jr.
    Hum. Mol. Genet. 6:659-664(1997) [PubMed] [