Ring finger protein 213 is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...

that in humans is encoded by the ''RNF213''

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...

. RNF213 is a 591kDa cytosolic E3 Ubiquitin-ligase with RING finger and AAA+ ATPase domains.

Clinical relevance

Chromosome-wide linkage analysis found that moyamoya disease locus resides in chromosome 17q25. Genome-wide linkage analysis of 15 Japanese families of autosomal dominant moyamoya disease narrowed down the locus to 17q25.3. Direct sequencing of the region and whole-exome sequencing identified the p.Arg4810Lys mutation in ''RNF213'' gene as a founder mutation of

moyamoya disease Moyamoya disease is a disease in which certain arteries in the brain are constricted. Blood flow is blocked by constriction and blood clots (thrombosis). A collateral circulation develops around the blocked vessels to compensate for the blockage, ...

. A genome-wide association study also identified ''RNF213'' as a disease causing gene for

Moyamoya disease Moyamoya disease is a disease in which certain arteries in the brain are constricted. Blood flow is blocked by constriction and blood clots (thrombosis). A collateral circulation develops around the blocked vessels to compensate for the blockage, ...

. Comparative evolutionary genome sequencing analyses in humans and monkeys showed that the strongest evidence for acceleration along the branch leading to hominines was RNF213. RNF213 has been shown to be associated with blood flow and oxygen consumption. 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.

Clinical relevance

References

Further reading