基因名称(Gene Name)
RAB27A RAB27
蛋白名称
Ras-related protein Rab-27A (Rab-27) (GTP-binding protein Ram)
免疫原
Synthesized peptide derived from human protein . at AA range: 90-170
特异性
RB27A Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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],
功能
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
