EME2

Chr 16

essential meiotic structure-specific endonuclease subunit 2

Also known as: SLX2B, gs125

NCBI Gene: 197342 ENSG00000197774 UniProt: A4GXA9

EME2 encodes the non-catalytic subunit of the MUS81-EME2 endonuclease complex that cleaves DNA structures during replication fork processing and genome maintenance. Mutations cause a rare autosomal recessive disorder characterized by severe intellectual disability, microcephaly, growth retardation, and distinctive facial features. This gene shows low constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.94

LOEUF

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Mechanism

Some data sources returned errors (1)