The MLPH gene provides instructions for making a protein called melanophilin. This protein is found in pigment-producing cells called melanocytes, where it helps transport structures called melanosomes. These structures produce a pigment called melanin, which is the substance that gives skin, hair, and eyes their color (pigmentation). Melanophilin interacts with proteins produced from the MYO5A and RAB27A genes to form a complex that transports melanosomes to the outer edges of melanocytes. From there, the melanosomes are transferred to other types of cells, where they provide the pigment needed for normal hair, skin, and eye coloring.
Other Names
exophilin-3; l(1)-3Rk; l1Rk3; MELPH_HUMAN; Slac-2a; SLAC2-A; slp homolog lacking C2 domains a; synaptotagmin-like protein 2a
Related Genetics Topics
Identifiers
- NCBI Gene: 79083
- OMIM: 606526
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
