NSMCE1

Chr 16

NSE1 component of SMC5/6 complex

Also known as: NSE1

NCBI Gene: 197370 ENSG00000169189 UniProt: Q8WV22 OMIM: 617263

NSMCE1 encodes a RING-type E3 ubiquitin ligase that functions within the SMC5-SMC6 complex to maintain genome integrity through DNA damage response and homologous recombination-mediated DNA repair. Mutations cause an autosomal recessive primary immunodeficiency characterized by growth retardation, developmental delay, facial dysmorphism, and increased susceptibility to infections. The gene shows tolerance to loss-of-function variants (pLI 0.00002, LOEUF 1.178), consistent with the recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Enables protein dimerization activity and ubiquitin protein ligase activity. Involved in DNA damage response. Located in nucleoplasm. Part of Smc5-Smc6 complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)