Melanophilin (MLPH)

Melanophilin is a Rab effector protein that acts as a molecular adaptor facilitating the transport of melanosomes, pigment-containing organelles, within melanocytes. It forms a tripartite complex with the small GTPase Rab27a and the actin-based motor protein myosin Va, linking melanosomes to the actin cytoskeleton to enable their movement to the cell periphery and subsequent transfer to keratinocytes. Disruption of Melanophilin, particularly due to mutations in the MLPH gene, impairs this transport process, leading to abnormal melanosome distribution and loss of normal pigmentation, as seen in Griscelli syndrome type 3. Melanophilin contains several distinct domains: a conserved N-terminal Rab27-binding domain (R27BD), a medial myosin Va-binding domain (MBD), and a C-terminal actin-binding domain (ABD). Its principal biological role is in pigmentation by regulating melanosome trafficking and distribution in pigment-producing cells[1][2][3][4][5].

Other names

exophilin-3SLAC2ASlac2-al1Rk3l(1)-3RkSlp homolog lacking C2 domains aSynaptotagmin-like protein 2aSLAC2-Asynaptotagmin-like protein homologue lacking C2 domains-aln