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.
Other Names
AIM-1; AIM1; MATP; melanoma antigen AIM1; membrane associated transporter; membrane-associated transporter protein; S45A2_HUMAN; solute carrier family 45, member 2
Related Genetics Topics
Identifiers
- NCBI Gene: 51151
- OMIM: 606202
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
