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RNF213 encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. Additionally we are shipping RNF213 Proteins (3) and many more products for this protein.
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Human Polyclonal RNF213 Primary Antibody for IHC (p), IHC - ABIN188703
Zody, Garber, Adams, Sharpe, Harrow, Lupski, Nicholson, Searle, Wilming, Young, Abouelleil, Allen, Bi, Bloom, Borowsky, Bugalter, Butler, Chang, Chen, Cook, Corum, Cuomo, de Jong, DeCaprio, Dewar et al.: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. ... in Nature 2006
Caveolin-1 (show CAV1 Antibodies) level was decreased in patients with Moyamoya disease and markedly decreased in RNF213 variant carriers. Path analysis showed that the presence of the RNF213 variant was associated with caveolin-1 (show CAV1 Antibodies) levels that could lead to Moyamoya disease.
These results suggest that, in our cohort of Korean patients, the p.Arg4810Lys is the only variant that is strongly associated with Moyamoya disease among the 30 RNF213 variants listed in the Human Gene Mutation Database.
This study suggests that the rs112735431 polymorphism of the RNF213 may be linked to the hypertension in moyamoya disease.
PTP1B (show PTPN1 Antibodies)/RNF213/alpha-KGDD pathway is critical for survival of HER2 (show ERBB2 Antibodies)(+) breast cancer, and possibly other malignancies, in the hypoxic tumour microenvironment
Both RNF213 D4013N and V4146A significantly decreased re-endothelialization in the migration assay compared with RNF213 WT and the control vector.
We found that RNF213 single nucleotide polymorphism rs6565666 was associated with intracranial aneurysms in French-Canadian individuals.
The RNF213 p.R4810K variant appears to be significantly associated with coronary artery disease in the Japanese population.
RNF213 p.R4810K polymorphism was significantly associated with quasi-moyamoya disease.
RNF213 is not only associated with MMD but also associated with intracranial major artery stenosis. The genotypes of RNF213 correlate with the phenotypes of MMD.
Case-control study and meta-analysis both provide evidence of an association between the rs112735431 polymorphism in the RNF213 gene and moyamoya risk.
The mechanisms underlying the development of moyamoya disease currently remain unclear, the RNF213 abnormality may compromise immunological self-tolerance, thereby contributing to the development of moyamoya disease.
The Rnf213 gene was up-regulated in the ischemic brain, especially at the penumbra (show TSPAN33 Antibodies) area, as early as 6 h after transient middle cerebral artery occlusion
Suggest that RNF213 R4810K carriers have lower angiogenic capacities, indicating that they might be more susceptible to insults of cerebral hypoxia.
Angiogenesis was enhanced in mice lacking RNF213 after chronic hind-limb ischemia, which suggested the potential role of the RNF213 abnormality in the development of pathological vascular networks in chronic ischemia.
Functional loss of RNF213 did not sufficiently induce moyamoya disese. Suppression of vascular remodeling in RNF213-/- requires further examination to clarify the role of RNF213.
These findings indicated that the disruption of Rnf213 improved glucose tolerance by protecting islet beta cells.
This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2\;17)(p23\;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8\;17)(q24\;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants.
ring finger protein 213
, protein ALO17-like
, ALK lymphoma oligomerization partner on chromosome 17
, E3 ubiquitin-protein ligase RNF213
, protein ALO17