Human Ras and Rab interactor 2 ELISA Kit | RIN2 elisa kit
Human Ras and Rab interactor 2, RIN2 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
Uniprot Description
RIN2: Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP. Defects in RIN2 are the cause of MACS syndrome (MACS); also called macrocephaly alopecia cutis laxa and scoliosis syndrome. MACS is an autosomal-recessive inherited complex disorder of elastic tissue, characterized by sagging skin and occasionally by life-threatening visceral complications. Belongs to the RIN (Ras interaction/interference) family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: GEFs, Rab; GEFs; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 20p11.22
Cellular Component: cytoplasm
Molecular Function: Rab guanyl-nucleotide exchange factor activity; GTPase activator activity
Biological Process: regulation of catalytic activity; small GTPase mediated signal transduction; endocytosis
Disease: Macs Syndrome
Research Articles on RIN2
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Product Notes
The Human RIN2 rin2 (Catalog #AAA9331882) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9331882 ELISA Kit recognizes Human RIN2. It is sometimes possible for the material contained within the vial of "Ras and Rab interactor 2, ELISA Kit" 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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