TYR

GENE INFORMATION

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Gene name

TYR (HGNC Symbol)

Synonyms

OCA1, OCA1A, OCAIA

Description

Tyrosinase (HGNC Symbol)

Entrez gene summary

The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]

Chromosome

11

Cytoband

q14.3

Chromosome location (bp)

88910620 - 89028927

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000077498 (version 75.37)

Entrez gene

7299

UniProt

P14679 (UniProt - Evidence at protein level)

neXtProt

NX_P14679

Antibodypedia

TYR antibodies
 

PROTEIN VIEW

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TYR-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TYR-001 ENSP00000263321
ENST00000263321
P14679
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