RAB27A recombinant protein
Recombinant Human RAB27A, Member RAS Oncogene Family
Sterile filtered colorless solution.
Introduction: RAB27A is part of the small GTPase superfamily, Rab family. RAB27A is membrane-bound and participates in protein transport and small GTPase mediated signal transduction. Mutations in this RAB27A are associated with Griscelli syndrome type 2. RAB27A is involved in cytotoxic granule exocytosis in lymphocytes.RAB27A is necessary for both granule maturation and granule docking and priming at the immunologic synapse.
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: 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
Research Articles on RAB27A
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Product Notes
The RAB27A rab27a (Catalog #AAA144037) is a Recombinant Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: MGSSHHH HHH SSGLVPRGSH MSDGDYDYLI KFLALGDSGV GKTSVLYQYT DGKFNSKFIT TVGIDFREKR VVYRASGPDG ATGRGQRIHL QLWDTAGQER FRSLTTAFFR DAMGFLLLFD LTNEQSFLNV RNWISQLQMH AYCENPDIVL CGNKSDLEDQ RVVKEEEAIA LAEKYGIPYF ETSAANGTNI SQAIEMLLDL IMKRMERCVD KSWIPEGVVR SNGHASTDQL SEEKEKGACG C. It is sometimes possible for the material contained within the vial of "RAB27A, Recombinant Protein" 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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