P04066 (FUCO_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Tissue alpha-L-fucosidase
EC=3.2.1.51

Alternative name(s):
Alpha-L-fucosidase I
Alpha-L-fucoside fucohydrolase 1
Short name=Alpha-L-fucosidase 1

Gene names

Name:	FUCA1
ORF Names:	Nbla10230

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	466 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.
Catalytic activity	An alpha-L-fucoside + H2O = L-fucose + an alcohol.
Subunit structure	Homotetramer.
Subcellular location	Lysosome.
Polymorphism	There are two common alleles of FUCA1; FUCA1*1; also known as Fu1; has Arg-281 and FUCA1*2; also known as Fu2; has Gln-281.
Involvement in disease	Fucosidosis (FUCA1D) [MIM:230000]: An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.16 Ref.18
Sequence similarities	Belongs to the glycosyl hydrolase 29 family.
Sequence caution	The sequence AAA35519.1 differs from that shown. Reason: Erroneous initiation. The sequence AAA52481.1 differs from that shown. Reason: Erroneous initiation. The sequence AAH17338.1 differs from that shown. Reason: Erroneous initiation. The sequence CAA25646.1 differs from that shown. Reason: Translation of X01390 sequence produces a larger peptide than that shown in CAA25646.1.

Ontologies

Keywords
Cellular component	Lysosome
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Signal
Molecular function	Glycosidase Hydrolase
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	fucose metabolic process Inferred from electronic annotation. Source: InterPro glycosaminoglycan catabolic process Non-traceable author statement PubMed 11698403. Source: UniProtKB
Cellular_component	cytoplasm Inferred by curator PubMed 11698403. Source: UniProtKB lysosome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	alpha-L-fucosidase activity Traceable author statement PubMed 11698403. Source: UniProtKB carbohydrate binding Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 31	31	Potential
	Chain	32 – 466	435	Tissue alpha-L-fucosidase		PRO_0000010308
Sites
	Site	296	1	May be important for catalysis
Amino acid modifications
	Modified residue	170	1	Phosphothreonine Ref.14
	Glycosylation	241	1	N-linked (GlcNAc...) Ref.12
	Glycosylation	268	1	N-linked (GlcNAc...) Potential
	Glycosylation	382	1	N-linked (GlcNAc...) Ref.12
Natural variations
	Natural variant	2	1	R → W. Corresponds to variant rs2070955 [ dbSNP | Ensembl ].		VAR_049106
	Natural variant	10	1	P → R. Corresponds to variant rs2070956 [ dbSNP | Ensembl ].		VAR_016233
	Natural variant	65	1	G → D in FUCA1D; loss of activity. Ref.1		VAR_002442
	Natural variant	68	1	S → L in FUCA1D. Ref.16		VAR_002443
	Natural variant	146	1	P → L. Corresponds to variant rs2228424 [ dbSNP | Ensembl ].		VAR_049107
	Natural variant	260	1	V → I. Corresponds to variant rs665 [ dbSNP | Ensembl ].		VAR_049108
	Natural variant	269	1	C → S. Ref.6 Ref.10 Ref.20 Corresponds to variant rs1126512 [ dbSNP | Ensembl ].		VAR_016234
	Natural variant	286	1	Q → R in allele FUCA1*2. Ref.1 Ref.15 Ref.17 Ref.20 Corresponds to variant rs13551 [ dbSNP | Ensembl ].		VAR_002444
	Natural variant	410	1	L → R in FUCA1D; less than 1% of residual activity. Ref.18		VAR_016235
Experimental info
	Sequence conflict	54 – 56	3	DEA → NEV in BAC04002. Ref.3
	Sequence conflict	74	1	S → T no nucleotide entry Ref.7
	Sequence conflict	76 – 77	2	WF → FL in AAA52482. Ref.8
	Sequence conflict	76 – 77	2	WF → FL in CAA25646. Ref.9
	Sequence conflict	93 – 114	22	Missing in BAC04002. Ref.3
	Sequence conflict	127	1	A → T in BAC04002. Ref.3
	Sequence conflict	171	1	A → G in BAC04002. Ref.3
	Sequence conflict	244	1	N → D in BAC04002. Ref.3
	Sequence conflict	427	1	Q → P in AAA52482. Ref.8

Sequences

	Sequence		Length	Mass (Da)
	P04066 [UniParc]. Last modified July 24, 2007. Version 4. Checksum: D9A38ECC7BADCBBB	FASTA	466	53,689
	10 20 30 40 50 60 MRAPGMRSRP AGPALLLLLL FLGAAESVRR AQPPRRYTPD WPSLDSRPLP AWFDEAKFGV 70 80 90 100 110 120 FIHWGVFSVP AWGSEWFWWH WQGEGRPQYQ RFMRDNYPPG FSYADFGPQF TARFFHPEEW 130 140 150 160 170 180 ADLFQAAGAK YVVLTTKHHE GFTNWPSPVS WNWNSKDVGP HRDLVGELGT ALRKRNIRYG 190 200 210 220 230 240 LYHSLLEWFH PLYLLDKKNG FKTQHFVSAK TMPELYDLVN SYKPDLIWSD GEWECPDTYW 250 260 270 280 290 300 NSTNFLSWLY NDSPVKDEVV VNDRWGQNCS CHHGGYYNCE DKFKPQSLPD HKWEMCTSID 310 320 330 340 350 360 KFSWGYRRDM ALSDVTEESE IISELVQTVS LGGNYLLNIG PTKDGLIVPI FQERLLAVGK 370 380 390 400 410 420 WLSINGEAIY ASKPWRVQWE KNTTSVWYTS KGSAVYAIFL HWPENGVLNL ESPITTSTTK 430 440 450 460 ITMLGIQGDL KWSTDPDKGL FISLPQLPPS AVPAEFAWTI KLTGVK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Fucosidosis: four new mutations and a new polymorphism." Seo H.-C., Willems P.J., Kretz K.A., Martin B.M., O'Brien J.S. Hum. Mol. Genet. 2:423-429(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT FUCA1D ASP-65, VARIANT ARG-286.
[2]	"Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma." Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S., Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S., Hirato J., Nakagawara A. Cancer Lett. 197:63-68(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Neuroblastoma.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Spleen.
[4]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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]. Tissue: Skin.
[6]	"Human alpha-L-fucosidase: complete coding sequence from cDNA clones." Occhiodoro T., Beckmann K.R., Morris C.P., Hopwood J.J. Biochem. Biophys. Res. Commun. 164:439-445(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-466, VARIANT SER-269.
[7]	"Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase." Fukushima H., Nishimoto J., Okada S. J. Inherit. Metab. Dis. 13:761-765(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3-92. Tissue: Placenta.
[8]	"Molecular cloning of a cDNA for human alpha-L-fucosidase." Fukushima H., de Wet J.R., O'Brien J.S. Proc. Natl. Acad. Sci. U.S.A. 82:1262-1265(1985) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 75-427.
[9]	"Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library." de Wet J.R., Fukushima H., Dewji N.N., Wilcox E., O'Brien J.S., Helinski D.R. DNA 3:437-447(1984) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 75-426.
[10]	"Molecular biology of the alpha-6L-fucosidase gene and fucosidosis." O'Brien J.S., Willems P.J., Fukushima H., de Wet J.R., Darby J.K., Dicioccio R.A., Fowler M.L., Shows T.B. Enzyme 38:45-53(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 75-426, VARIANT SER-269.
[11]	"Structural analysis of the carbohydrate moieties of alpha-L-fucosidase from human liver." Beem E.P., Lisman J.J.W., van Steijn G.J., van der Wal C.J., Trippelvitz L.A.W., Overdijk B., van Halbeek H., Mutsaers J.H.G.M., Vliegenthart J.F.G. Glycoconj. J. 4:33-42(1987) Cited for: STRUCTURE OF CARBOHYDRATES.
[12]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-241 AND ASN-382, MASS SPECTROMETRY. Tissue: Liver.
[13]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-170, MASS SPECTROMETRY.
[15]	"Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family." Yang M., Allen H., Dicioccio R.A. Biochim. Biophys. Acta 1182:245-249(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARG-286.
[16]	"A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient." Seo H.-C., Yang M., Tonlorenzi R., Willems P.J., Kim A.H., Filocamo M., Gatti R., Dicioccio R.A., O'Brien J.S. Hum. Mol. Genet. 3:2065-2066(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FUCA1D LEU-68.
[17]	"Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase." Cragg H., Winchester B., Seo H.-C., O'Brien J.S., Swallow D. J. Med. Genet. 31:659-660(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARG-286.
[18]	"A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene." Fleming C.J., Sinclair D.U., White E.J., Winchester B., Whiteford M.L., Connor J.M. J. Inherit. Metab. Dis. 21:688-689(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FUCA1D ARG-410.
[19]	"Spectrum of mutations in fucosidosis." Willems P.J., Seo H.-C., Coucke P., Tonlorenzi R., O'Brien J.S. Eur. J. Hum. Genet. 7:60-67(1999) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON VARIANTS.
[20]	"A novel FUCA1 mutation causing fucosidosis in a Chinese boy." Ip P., Goh W., Chan K.W., Cheung P.T. J. Inherit. Metab. Dis. 25:415-416(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SER-269 AND ARG-286.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	M80815 , M80809, M80810, M80811, M80812, M80813, M80814 Genomic DNA. Translation: AAA52481.1. Different initiation. AB074175 mRNA. Translation: BAE45738.1. AK092914 mRNA. Translation: BAC04002.1. AL590728 Genomic DNA. Translation: CAH74004.2. BC017338 mRNA. Translation: AAH17338.1. Different initiation. M29877 mRNA. Translation: AAA35519.1. Different initiation. M10355 mRNA. Translation: AAA52482.1. X01390 mRNA. Translation: CAA25646.1. Sequence problems.
IPI	IPI00843910.
PIR	HWHUFA. A33427.
RefSeq	NP_000138.2. NM_000147.4.
UniGene	Hs.370858.
3D structure databases
ProteinModelPortal	P04066.
ModBase	Search...
Protein-protein interaction databases
IntAct	P04066. 3 interactions.
STRING	9606.ENSP00000363603.
Protein family/group databases
CAZy	GH29. Glycoside Hydrolase Family 29.
PTM databases
PhosphoSite	P04066.
Polymorphism databases
DMDM	156631012.
Proteomic databases
PaxDb	P04066.
PRIDE	P04066.
Protocols and materials databases
DNASU	2517.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000374479; ENSP00000363603; ENSG00000179163.
GeneID	2517.
KEGG	hsa:2517.
UCSC	uc001bie.3. human.
Organism-specific databases
CTD	2517.
GeneCards	GC01M024171.
HGNC	HGNC:4006. FUCA1.
MIM	230000. phenotype. 612280. gene.
neXtProt	NX_P04066.
Orphanet	349. Fucosidosis.
PharmGKB	PA28422.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG3669.
HOGENOM	HOG000029598.
HOVERGEN	HBG002155.
InParanoid	P04066.
KO	K01206.
OMA	DRWGQNC.
OrthoDB	EOG4BRWKH.
Enzyme and pathway databases
BRENDA	3.2.1.51. 2681.
SABIO-RK	P04066.
Gene expression databases
ArrayExpress	P04066.
Bgee	P04066.
CleanEx	HS_FUCA1.
Genevestigator	P04066.
GermOnline	ENSG00000179163. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.1180. 1 hit. 3.20.20.80. 1 hit.
InterPro	IPR013780. Glyco_hydro_13_b. IPR000933. Glyco_hydro_29. IPR018526. Glyco_hydro_29_CS. IPR016286. Glyco_hydro_29_sub. IPR013781. Glyco_hydro_catalytic_dom. IPR017853. Glycoside_hydrolase_SF. [Graphical view]
PANTHER	PTHR10030. PTHR10030. 1 hit.
Pfam	PF01120. Alpha_L_fucos. 1 hit. [Graphical view]
PIRSF	PIRSF001092. Alpha-L-fucosidase. 1 hit.
PRINTS	PR00741. GLHYDRLASE29.
SMART	SM00812. Alpha_L_fucos. 1 hit. [Graphical view]
SUPFAM	SSF51445. Glyco_hydro_cat. 1 hit.
PROSITE	PS00385. ALPHA_L_FUCOSIDASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	P04066.
ChEMBL	CHEMBL4176.
GenomeRNAi	2517.
NextBio	9913.
SOURCE	Search...

Entry information

Entry name

FUCO_HUMAN

Accession

Primary (citable) accession number: P04066
Secondary accession number(s): Q14334 , Q14335, Q3LID0, Q8NAC2

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1986
Last sequence update:	July 24, 2007
Last modified:	May 1, 2013
This is version 143 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.