The ring finger protein 213 (RNF213) gene is mapped around 137,922-bp region on chromosome 17q25.3. This gene with 67 protein coding exons codes for 596kDa protein RNF213, which is predominantly expressed in spleen and leukocytes. The encoded protein is characterized with an AAA ATPase domain, a-2-macroglobulin and ring finger domains, which impart both E3 ubiquitin ligase activity and energy-dependent unfoldase property to the protein.
Synonyms: Anti-BCEI; Anti-C17orf27; Anti-D21S21; Anti-HP1.A; Anti-HPS2; Anti-KIAA1554; Anti-KIAA1618; Anti-NET57; Anti-pNR-2; Anti-pS2; Anti-ring finger protein 213
Storage: -20C
Application: All Prestige Antibodies Powered by Atlas Antibodies are developed and validated by the Human Protein Atlas (HPA) project (www.proteinatlas.org)and as a result, are supported by the most extensive characterization in the industry. The Human Protein Atlas project can be subdivided into three efforts: Human Tissue Atlas, Cancer Atlas, and Human Cell Atlas. The antibodies that have been generated in support of the Tissue and Cancer Atlas projects have been tested by immunohistochemistry against hundreds of normal and disease tissues and through the recent efforts of the Human Cell Atlas project, many have been characterized by immunofluorescence to map the human proteome not only at the tissue level but now at the subcellular level. These images and the collection of this vast data set can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige.
Biochem Physiol Actions: The ring finger protein 213 (RNF213) facilitates proper gene expressions in endothelial cells by reacting with inflammatory signals from environment. Mutations in the expression of this gene will lead to a cerebrovascular disorder called moyamoya disease (MMD). The encoded protein plays a role in angiogenesis. RNF213 R4810K polymorphism in HeLa cells leads to aberrations in the mitotic process and elevated risk of genomic instability. In zebrafish, RNF213 plays a crucial role in vascular development.
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