Target：RB27A

Gene Name：RAB27A RAB27

Protein Name：Ras-related protein Rab-27A (Rab-27) (GTP-binding protein Ram)

Human Gene Id：5873

Human Swiss Prot No：P51159

Mouse Swiss Prot No：Q9ERI2

Rat Swiss Prot No：P23640

Immunogen：Synthesized peptide derived from human protein . at AA range: 90-170

Specificity：RB27A Polyclonal Antibody detects endogenous levels of protein.

Formulation：Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500-2000 ELISA 1:5000-20000

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Observed Band(KD)：24kD

Background： 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],

Function：disease:Defects in RAB27A are a cause of Griscelli syndrome type-2 (GS2) [MIM:607624]. 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.,online information:RAB27A mutation db,online information:Retina International's Scientific Newsletter,similarity:Belongs to the small GTPase superfamily. Rab family.,subcellular location:Identified by mass spectrometry in melanosome fractions from stage I to stage IV.,subunit:Binds SYTL1, SYTL2, SLAC

Subcellular Location：Membrane ; Lipid-anchor . Melanosome . Late endosome . Lysosome . Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:12643545, PubMed:17081065). Localizes to endosomal exocytic vesicles (PubMed:17237785). .

Expression：Found in all the examined tissues except in brain. Low expression was found in thymus, kidney, muscle and placenta. Detected in melanocytes, and in most tumor cell lines examined. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells.