Aliases for SLC45A2 Gene
External Ids for SLC45A2 Gene
Previous HGNC Symbols for SLC45A2 Gene
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]
GeneCards Summary for SLC45A2 Gene
SLC45A2 (Solute Carrier Family 45 Member 2) is a Protein Coding gene. Diseases associated with SLC45A2 include Albinism, Oculocutaneous, Type Iv and Oculocutaneous Albinism. Among its related pathways are Metabolism and Melanin biosynthesis. An important paralog of this gene is SLC45A1.
UniProtKB/Swiss-Prot for SLC45A2 Gene
Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity).