Ras and Rab Interactor 2 (RIN2) ELISA Kits

The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. Zusätzlich bieten wir Ihnen RIN2 Antikörper (11) und RIN2 Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
Anti-Ratte RIN2 RIN2 311494  
Anti-Human RIN2 RIN2 54453 Q8WYP3
Anti-Maus RIN2 RIN2 74030 Q9D684
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Weitere ELISA Kits für RIN2 Interaktionspartner

Human Ras and Rab Interactor 2 (RIN2) Interaktionspartner

  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.

  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.

  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.

  4. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.

RIN2 Antigen-Profil

Beschreibung des Gens

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.

Genbezeichner und Symbole assoziert mit RIN2

  • Ras and Rab interactor 2 (Rin2) Antikörper
  • Ras and Rab interactor 2 (RIN2) Antikörper
  • Ras and Rab interactor 2 (rin2) Antikörper
  • 2010003K16Rik Antikörper
  • 4632403N06Rik Antikörper
  • AW821980 Antikörper
  • MACS Antikörper
  • RASSF4 Antikörper
  • RIN2 Antikörper
  • RINL Antikörper

Bezeichner auf Proteinebene für RIN2

ras and Rab interactor 2 , Ras and Rab interactor 2 , RAB5 interacting protein 2 , ras and Rab interactor 2-like , RAS association (RalGDS/AF-6) domain containing protein JC265 , RAS association domain family 4 , RAS inhibitor JC265 , RAS interaction/interference protein 2 , ras interaction/interference protein 2

311494 Rattus norvegicus
421246 Gallus gallus
458123 Pan troglodytes
477139 Canis lupus familiaris
537459 Bos taurus
702775 Macaca mulatta
100033251 Monodelphis domestica
100144744 Xenopus (Silurana) tropicalis
100386384 Callithrix jacchus
100461092 Pongo abelii
100543757 Meleagris gallopavo
100552389 Anolis carolinensis
54453 Homo sapiens
74030 Mus musculus
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