SLC45A2

This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

solute carrier family 45, member 2

Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity).

Biological Process developmental pigmentationIEA:Ensembl
Biological Process melanin biosynthetic processIEA:UniProtKB-KW
Biological Process response to stimulusIEA:UniProtKB-KW
Biological Process sucrose transportISS:ParkinsonsUK-UCL
Biological Process visual perceptionIEA:UniProtKB-KW

Melanosome membrane

Albinism, oculocutaneous, 4 (OCA4):
A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.