Aliases for MGME1 Gene
External Ids for MGME1 Gene
Previous HGNC Symbols for MGME1 Gene
The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
GeneCards Summary for MGME1 Gene
MGME1 (Mitochondrial Genome Maintenance Exonuclease 1) is a Protein Coding gene. Diseases associated with MGME1 include mitochondrial dna depletion syndrome 11 and progressive external ophthalmoplegia - myopathy - emaciation. GO annotations related to this gene include single-stranded DNA exodeoxyribonuclease activity.
UniProtKB/Swiss-Prot for MGME1 Gene
Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5-3 exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells.