OCA2

Name

OCA2 melanosomal transmembrane protein

Type

protein-coding

Aliases

BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P

This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014].

via MyGene.info

Gene · Ensembl

OCA2 melanosomal transmembrane protein

Symbol

OCA2

Biotype

Protein coding

Organism

Homo sapiens

Location

15:27,754,859-28,099,664

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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