[5][6] 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.
[6] The RAB27A gene is regulated by the Microphthalmia-associated transcription factor.