RAB27A Human Recombinant Protein

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. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

RAB27A: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Defects in RAB27A are a cause of Griscelli syndrome type 2 (GS2). Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome. Belongs to the small GTPase superfamily. Rab family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: G protein, monomeric; G protein, monomeric, Rab

Chromosomal Location of Human Ortholog: 15q15-q21.1

Cellular Component: Golgi apparatus; photoreceptor outer segment; lysosome; secretory granule membrane; dendrite; apical plasma membrane; late endosome; melanosome; secretory granule

Molecular Function: GTPase activity; protein domain specific binding; protein binding; GDP binding; GTP binding; myosin V binding

Biological Process: exocytosis; natural killer cell degranulation; cytotoxic T cell degranulation; melanosome localization; protein secretion; synaptic vesicle transport; melanosome transport; antigen processing and presentation; intracellular protein transport; cellular protein metabolic process; positive regulation of phagocytosis; melanocyte differentiation; blood coagulation; Rab protein signal transduction; vesicle docking during exocytosis; protein targeting; positive regulation of exocytosis

Disease: Griscelli Syndrome, Type 2