Entrez 57674 | Ensembl ENSG00000173821 | |
External IDs MGI: 1289196 HomoloGene: 45439 GeneCards: RNF213 | ||
Ring finger protein 213 is a protein that in humans is encoded by the RNF213 gene. RNF213 is a 591kDa cytosolic E3 Ubiquitin-ligase with RING finger and AAA+ ATPase domains.
Clinical relevance
A genome-wide association study identified RNF213 as the first gene associated to Moyamoya disease. 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.
References
RNF213 Wikipedia(Text) CC BY-SA