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).

Spermatogenic failure 62

SPGF62

An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to complete metaphase arrest at the spermatocyte stage.

None

The disease is caused by variants affecting the gene represented in this entry.

Protein modification; protein sumoylation.

• Nucleus
• Chromosome
• Associates to the synaptonemal complex. Localizes to a minority of double-strand breaks (DSBs) sites. Marks crossover sites during midpachynema (By similarity).

Probable E3 SUMO-protein ligase RNF212, Probable E3 SUMO-protein transferase RNF212, RING finger protein 212, RNF212

• entrezGene:285498
• omim:612041
• swissprot:Q495C1

Proteins

33365Da