RAB27A

[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.