Recombinant Human Melanophilin (MLPH)

Uniprot Id

Q9BV36

Target Species

Human

Target Name

MLPH

Target Full Name

Melanophilin

Target Function

Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.

Target Involvement

Griscelli syndrome 3 (GS3)

Target Subcellular Location

Cytoplasm.

Target Synonyms

2210418F23Rik; 5031433I09Rik; AW228792; D1Wsu84e; Exophilin 3; Exophilin-3; l(1)-3Rk; l1Rk3; Leaden; Leaden protein; ln; Melanophilin; MELPH_HUMAN; MGC2771; MGC59733; Mlph; Slac 2a; SlaC2-a; Slp homolog lacking C2 domains a; Synaptotagmin like protein 2a; Synaptotagmin like protein lacking C2 domains A; Synaptotagmin-like protein 2a

Target Background

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.