Aliases for MUS81 Gene
External Ids for MUS81 Gene
Previous GeneCards Identifiers for MUS81 Gene
This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks. [provided by RefSeq, Jun 2017]
GeneCards Summary for MUS81 Gene
MUS81 (MUS81 Structure-Specific Endonuclease Subunit) is a Protein Coding gene. Diseases associated with MUS81 include Efemp2-Related Cutis Laxa and Cutis Laxa, Autosomal Recessive, Type Ib. Among its related pathways are DNA Double-Strand Break Repair and Resolution of D-loop Structures through Holliday Junction Intermediates. Gene Ontology (GO) annotations related to this gene include nuclease activity and 3'-flap endonuclease activity.
UniProtKB/Swiss-Prot Summary for MUS81 Gene
Interacts with EME1 and EME2 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks.