RAB27A
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.[5][6]
External IDsOMIM: 603868; MGI: 1861441; HomoloGene: 3069; GeneCards: RAB27A; OMA:RAB27A - orthologs
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.[6]
The RAB27A gene is regulated by the Microphthalmia-associated transcription factor.[7][8]