Sequence in raw or FASTA format:
SLC45A2 solute carrier family 45, member 2 [Homo sapiens (human)]
|Entrez Gene ID||51151|
|Full Name||solute carrier family 45, member 2|
|Synonyms||1A1, AIM1, MATP, OCA4, SHEP5|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Oculocutaneous albinism, type IV, 606574 (3); [Skin/hair/eye
|Homo sapiens (human)||SLC45A2||NP_057264.3|
|Pan troglodytes (chimpanzee)||SLC45A2||XP_526962.2|
|Macaca mulatta (Rhesus monkey)||SLC45A2||XP_002804382.1|
|Canis lupus familiaris (dog)||SLC45A2||NP_001033036.1|
|Bos taurus (cattle)||SLC45A2||XP_002696433.2|
|Mus musculus (house mouse)||Slc45a2||NP_444307.1|
|Rattus norvegicus (Norway rat)||Slc45a2||NP_001101123.1|
|Gallus gallus (chicken)||SLC45A2||NP_001076833.1|
|Danio rerio (zebrafish)||slc45a2||NP_001103847.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||slc45a2||NP_001011335.1|
|GO:0042438||melanin biosynthetic process||IEA|
|GO:0050896||response to stimulus||IEA|
|GO:0016021||integral component of membrane||IEA|
What is the normal function of the SLC45A2 gene?
The SLC45A2 gene (also called MATP) provides instructions for making a protein that is located in specialized cells called melanocytes. These cells produce a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. Melanin is also found in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in normal vision.
Although the exact function of the SLC45A2 protein is unknown, it is likely involved in the production of melanin. This protein probably transports molecules necessary for the normal function of melanosomes, which are the structures in melanocytes where melanin is produced. Studies suggest that certain common variations (polymorphisms) in the SLC45A2 gene may be associated with normal differences in skin, hair, and eye coloring.
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