rs181807989

This variant is located in the MLPH gene.

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ClinVar annotation

Likely Benign★★★☆

4 submitters2 publications

not provided; Griscelli syndrome type 3; MLPH-related disorder

About 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]

View all MLPH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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