Disease-gene associations mined from literature

Literature associating RNF212 and juvenile spinal muscular atrophy

RNF212 [ENSP00000389709]

Probable E3 SUMO-protein ligase RNF212; SUMO E3 ligase that acts as a regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May mediate sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination sites. Acts as a limiting factor for crossover designation and/or reinforcement and plays an antagonist role with CCNB1IP1/HEI10 in the regulation of meiotic recombination (By similarity).

Synonyms:  RNF212,  RNF212p,  hRNF212,  D6R9L2,  D6RA97 ...

Linkouts:  STRING  Pharos  UniProt  OMIM