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Official Full Name: NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
Also known as: NSE2; MMS21; ZMIZ7; C8orf36
This gene encodes a member of the E3 small ubiquitin-associated modifier (SUMO) ligase family that mediates the attachment of SUMO proteins to proteins involved in nuclear transport, transcription, chromosome segregation, and DNA repair. The encoded protein is part of the chromosome structure maintenance (SMC) 5/6 complex, which plays a key role in genome maintenance, promoting chromosome segregation and inhibiting mitotic recombination. Knockout of the mouse homolog before embryonic day 10.5 is lethal. Naturally occurring mutations in this gene, which disrupt SUMO ligase activity, are associated with primitive dwarfism and extreme insulin resistance.