Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Involvement in disease
Defects in MLPH are a cause of Griscelli syndrome type 3 (GS3) [MIM:609227]. GS3 is a rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations.
References for Anti-Melanophilin antibody (ab112954)
This product has been referenced in:
Cetica V et al. Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. J Allergy Clin Immunol135:1310-1318.e1 (2015).
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