RAB27A
Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.
Function
The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2 and hemophagocytic lymphohistiocytosis. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified.The RAB27A gene is regulated by the Microphthalmia-associated transcription factor.