MLPH

This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

Description

melanophilin

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

2:q37.3 (237485428 - 237555322)

Ensembl ID

ENSG00000115648  (ver. 98.38)

Orthologs

Mouse Mlph: ENSMUSG00000026303

UniProt

Q9BV36

neXtProt

NX_Q9BV36

Human splice variants
Mouse splice variants