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SLC45A2 gene

solute carrier family 45 member 2

Key facts

Official symbol
SLC45A2
Full name
SLC45A2
Chromosome
5
Map location
5p13.2
Organism
Homo sapiens
NCBI Gene ID
51151
Also known as
1A1, AIM1, MATP, OCA4, SHEP5

Function summary

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, Mar 2009].

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Data source: NCBI Gene · alsesAI Gene Library