For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

Affinity purified

Liquid

100ug/100ul (lot specific)

This product is stable for several weeks at 4 degree C as an undiluted liquid. Dilute only prior to immediate use. For extended storage, aliquot contents and freeze at -20 degree C or below. Avoid cycles of freezing and thawing. Expiration date is one (1) year from date of receipt.

Small volumes of anti-RAB27A antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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]

ELISA (EIA), Western Blot (WB)

ELISA titer: 1:20,000-1:80,000
Western blot analysis: 1:500-1:1,000
Optimal dilutions/concentrations should be determined by the end user.

24,041 Da

RAB27A, member RAS oncogene family

ras-related protein Rab-27A; GTP-binding protein Ram; rab-27

Ras-related protein Rab-27A

RB27A_HUMAN

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; secretory granule membrane; lysosome; apical plasma membrane; dendrite; 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; synaptic vesicle transport; protein secretion; melanosome transport; intracellular protein transport; antigen processing and presentation; cellular protein metabolic process; positive regulation of phagocytosis; melanocyte differentiation; blood coagulation; Rab protein signal transduction; vesicle docking during exocytosis; positive regulation of exocytosis; protein targeting

Disease: Griscelli Syndrome, Type 2

(1) Elstak,E.D., Neeft,M., Nehme,N.T. et al. The munc13-4-rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane. Blood 118 (6), 1570-1578 (2011).

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