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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 Antibodies (63) and many more products for this protein.
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Case-control study and meta-analysis both provide evidence of an association between the rs112735431 polymorphism in the RNF213 gene and moyamoya risk.
This is the first report, to our knowledge, of different moyamoya disease phenotypes in a familial case involving the same heterozygous c.14429G > A variant in RNF213.
Results suggested that rs112735431 in RNF213 was associated with increased risk of moyamoya disease, especially among Japanese and Korean compared with Chinese. [meta-analysis].
The RNF213 c.14576G>A variant is more common in NF-1 (show NF1 Proteins) patients who develop moyamoya syndrome than in NF-1 (show NF1 Proteins) patients without moyamoya syndrome.
The findings indicate that the c.14429G>A (p.R4810K) allele of RNF213 is strongly associated with Korean patients with MMD. The homozygous c.14429G>A (p.R4810K) variant is particularly related to early-onset MMD.
We herein report pediatric sibling patients of moyamoya disease who have homozygous wild-type c.14576G>A variant in RNF213, showing different clinical course and disease severity.
RNF213 plays unique roles in endothelial cells for proper gene expressions in response to inflammatory signals from environments.
There are strong associations between p.R4859K and p.R4810K polymorphisms of the RNF213 gene and Moyamoya disease (Meta-analysis).
RNF213 was not associated with bipolar disorder or schizophrenia.
Gene-based association analyses shows nominal significant association with multifocal fibromuscular dysplasia for RNF213.
The Rnf213 gene was up-regulated in the ischemic brain, especially at the penumbra (show TSPAN33 Proteins) 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