RNF213 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | RNF213 , ALO17, C17orf27, KIAA1618, MYMY2, MYSTR, NET57, ring finger protein 213 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 613768; MGI: 1289196; HomoloGene: 45439; GeneCards: RNF213; OMA:RNF213 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Ring finger protein 213 is a protein that in humans is encoded by the RNF213 gene. [5] RNF213 is a 591kDa cytosolic E3 ubiquitin ligase with RING finger and AAA+ ATPase domains.
Chromosome-wide linkage analysis found that moyamoya disease locus resides in chromosome 17q25. [6] Genome-wide linkage analysis of 15 Japanese families of autosomal dominant moyamoya disease narrowed down the locus to 17q25.3. [7] Direct sequencing of the region and whole-exome sequencing identified the p.Arg4810Lys mutation in RNF213 gene as a founder mutation of moyamoya disease. [8] A genome-wide association study also identified RNF213 as a disease causing gene for Moyamoya disease. [9] Comparative evolutionary genome sequencing analyses in humans and monkeys showed that the strongest evidence for acceleration along the branch leading to hominines was RNF213. [10] RNF213 has been shown to be associated with blood flow and oxygen consumption. [11] [12] [13] Given that oxygen and glucose consumption scales with total neuron number, RNF213 may have played a role in facilitating the evolution of larger brains in primates. [10]