MLPH
Gene Information
- Official Symbol: MLPH
- Official Name: melanophilin
- Aliases and Previous Symbols: N/A
- Entrez ID: 79083
- UniProt: Q9BV36
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. {ECO:0000269|PubMed:12062444}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 5697
- Expression level (log2 read counts): 1.43
MLPH Expression in NALM6 Cells: 1.43
