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]
Eme2 is a 379 amino acids nuclear protein. As a member of the Eme2/Mms4 family, Eme2 associates with MUS81 to constitute a DNA structure-specific endonuclease. The MUS81-Eme2 complex cleaves branched DNA structures, especially those arising during stalled DNA replication such as replication forks and 3' DNA flaps. Expressed as two alternatively spliced isoforms, Eme2 is encoded by a gene located on human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. Defects in the gene encoding WDR59 may be associated with the rare disorder Rubinstein-Taybi syndrome or Crohn's disease, which is a gastrointestinal inflammatory condition.
Function:
Interacts with MUS81 to form a DNA structure-specific endonuclease which cleaves substrates such as 3'-flap structures.
Subunit:
Interacts with MUS81.
Subcellular Location:
Nucleus.
Similarity:
Belongs to the EME1/MMS4 family.
SWISS:
A4GXA9
Gene ID:
197342
Database links:
Entrez Gene: 197342 Human
Omim: 610886 Human
SwissProt: A4GXA9 Human
Unigene: 7247 Human
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