Human Ras and Rab interactor 2 ELISA Kit | RIN2 elisa kit

Human Ras and Rab interactor 2, RIN2 ELISA Kit

Cat. Num. AAA9331882

• Gene Names: RIN2; MACS; RASSF4
• Reactivity: Human
• Synonyms: Ras and Rab interactor 2; Human Ras and Rab interactor 2; RIN2 ELISA Kit; Human Ras and Rab interactor 2 (RIN2) ELISA kit; MACS; RASSF4; RAB5 interacting protein 2; RAS association (RalGDS/AF-6) domain containing protein JC265; RAS association domain family 4; RAS inhibitor JC265; RAS interaction/interference protein 2; RIN2 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 336088636
• NCBI GeneID: 54453
• NCBI Accession #: NP_001229510.1
• NCBI GenBank Nucleotide #: NM_001242581.1
• UniProt Accession #: Q8WYP3; Q00425; Q5TFT8; Q9BQL3; Q9H071
• Molecular Weight: 100,163 Da
• NCBI Official Full Name: ras and Rab interactor 2 isoform 1
• NCBI Official Synonym Full Names: Ras and Rab interactor 2
• NCBI Official Symbol: RIN2
• NCBI Official Synonym Symbols: MACS; RASSF4
• NCBI Protein Information: ras and Rab interactor 2; RAS inhibitor JC265; RAB5 interacting protein 2; RAS association domain family 4; RAS interaction/interference protein 2; RAS association (RalGDS/AF-6) domain containing protein JC265
• UniProt Protein Name: Ras and Rab interactor 2
• Protein Family: Ras and Rab interactor
• UniProt Gene Name: RIN2
• UniProt Synonym Gene Names: RASSF4
• UniProt Entry Name: RIN2_HUMAN

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