The GPR143 gene, also known as OA1, provides instructions for making a protein that is involved in the coloring (pigmentation) of the eyes and skin. This protein is made in the light-sensitive tissue at the back of the eye (the retina) and in skin cells. The GPR143 protein is part of a signaling pathway that controls the growth and maturation of melanosomes, which are cellular structures that produce and store a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. In the retina, this pigment also plays a critical role in normal vision.
Other Names
GP143_HUMAN; OA1; ocular albinism 1 (Nettleship-Falls); ocular albinism type 1 protein
Related Genetics Topics
Identifiers
- NCBI Gene: 4935
- OMIM: 300808
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
