SLC45A2

Solute carrier family 45, member 2
Identifiers
SLC45A2 Gene
RNA expression pattern

Membrane-associated transporter protein (MATP) also known as solute carrier family 45 member 2 (SLC45A2) or melanoma antigen AIM1 is a protein that in humans is encoded by the SLC45A2 gene.[1][2][3]

Function

SLC45A2 is a transporter protein that mediates melanin synthesis. SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines. A similar sequence gene in medaka, 'B,' encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms.[3]

In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor.[4][5]

SLC45A2 has been found to play a role in pigmentation in several species. In humans, it has been identified as a factor in the light skin of Europeans and as an ancestry-informative marker (AIM) for distinguishing Sri Lankan from European ancestry.[6] SLC45A2 is the so-called cream gene responsible in horses for buckskin, palomino and cremello coloration, while a mutation in this gene underlies the white tiger variant.[7]

See also

References

Further reading

External links

  • GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 4

This article incorporates text from the United States National Library of Medicine, which is in the public domain.