RIN2 Antibody

Code CSB-PA019727XA01HU
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) RIN2 Polyclonal antibody
Uniprot No.
Target Names
RIN2
Alternative Names
RIN2 antibody; RASSF4 antibody; Ras and Rab interactor 2 antibody; Ras association domain family 4 antibody; Ras inhibitor JC265 antibody; Ras interaction/interference protein 2 antibody
Raised in
Rabbit
Species Reactivity
Homo sapiens (Human)
Immunogen
Recombinant Homo sapiens (Human) RIN2 protein
Immunogen Species
Homo sapiens (Human)
Conjugate
Non-conjugated
Clonality
Polyclonal
Isotype
IgG
Purification Method
Antigen Affinity Purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Tested Applications
ELISA, WB (ensure identification of antigen)
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Value-added Deliverables
① 200ug * antigen (positive control);
② 1ml * Pre-immune serum (negative control);
Quality Guarantee
① Antibody purity can be guaranteed above 90% by SDS-PAGE detection;
② ELISA titer can be guaranteed 1: 64,000;
③ WB validation with antigen can be guaranteed positive;
Lead Time
Made-to-order (14-16 weeks)

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Target Background

Function
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.
Gene References into Functions
  1. we describe a 10th patient, the first patient of Caucasian origin and the oldest reported patient so far, who harbors the previously identified homozygous RIN2 mutation c.1878dupC (p. (Ile627Hisfs*7)). Besides the hallmark features, this patient also presents problems not previously associated with RIN2 syndrome, including cervical vertebral fusion, mild hearing loss, and colonic fibrosis. PMID: 27277385
  2. We describe the fourth family with RIN2 syndrome in two siblings with a novel homozygous mutation in the RIN2 gene and exhibiting additional clinical features that may also contribute to further delineation of the phenotypic spectrum. PMID: 24449201
  3. These findings confirm that RIN2 defects are associated with a distinct genodermatosis and underscore the involvement of RIN2 and its associated pathways in the pathogenesis of connective tissue disorders. PMID: 20424861
  4. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. PMID: 19631308
Involvement in disease
MACS syndrome (MACS)
Subcellular Location
Cytoplasm.
Protein Families
RIN (Ras interaction/interference) family
Tissue Specificity
Widely expressed. Expressed in heart, kidney, lung placenta. Expressed at low level in skeletal muscle, spleen and peripheral blood.
Database Links

HGNC: 18750

OMIM: 610222

KEGG: hsa:54453

STRING: 9606.ENSP00000255006

UniGene: Hs.472270

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