RAB27A blocking peptide
RAB27A Blocking Peptide (C-term)
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: dendrite; late endosome; lysosome; melanosome; secretory granule
Molecular Function: GDP binding; GTP binding; GTPase activity; protein binding
Biological Process: antigen processing and presentation; exocytosis; melanosome localization; melanosome transport; positive regulation of exocytosis; positive regulation of phagocytosis; synaptic vesicle transport
Disease: Griscelli Syndrome, Type 2
Research Articles on RAB27A
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Product Notes
The RAB27A rab27a (Catalog #AAA9228917) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "RAB27A, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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