QuickView for SLC45A2;jsessionid=618675BE566BFC19F252A8F2E08E578E (gene)

Gene Symbol:

SLC45A2 Homo sapiens

Full name:

solute carrier family 45 member 2

Synonyms:

1A1, AIM1, MATP, OCA4, SHEP5, membrane-associated transporter protein, melanoma antigen AIM1, protein AIM-1, underwhite

Genomic Location:

Chr 5: 33980478-34020537

Description:

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 iso...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

FAC1_01

Cytogenetic Map:

5p13.2

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