Melanophilin (MLPH)

l1Rk3; l(1)-3Rk; Slac-2a; ln; Exophilin-3; Slp homolog lacking C2 domains a; Synaptotagmin-like protein 2a

SPN	P098
HGNC	29643
MGI	2176380
PubMed	12062444
RGD	1310733
UniProt	Q9BV36
Wiki	Melanophilin

Melanophilin 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 of this gene have been described, but the full-length nature of some of these variants has not been determined.

Reference

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions."
FEBS Lett. 517:233-238(2002) [PubMed] [Europe PMC] [Abstract]

"Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)."
J. Clin. Invest. 112:450-456(2003) [PubMed] [Europe PMC] [Abstract]