MGME1 Antibody – Rabbit Polyclonal

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]

MGME1: an endo-/exonuclease involved in mitochondrial genome maintenance. Lacks detectable ribonuclease activity. Degrades DNA mainly in a 3'5' direction with a strong preference for single-stranded DNA. Requires free ends for its activity. Does not degrade circular substrates. 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. Overexpression decreases the levels of 7S DNA, suggesting an important role in 7S DNA regulation. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions (PEOAX), characterized by external ophthalmoplegia, emaciation and respiratory failure. Muscle biopsies show mtDNA depletion and multiple mtDNA deletions. A protein of the PD-(D/E)XK superfamily and MGME1 family. Belongs to the MGME1 family.

Protein type: Deoxyribonuclease; EC 3.1.-.-; Mitochondrial

Chromosomal Location of Human Ortholog: 20p11.23

Cellular Component: mitochondrion

Molecular Function: single-stranded DNA specific exodeoxyribonuclease activity

Biological Process: mitochondrial DNA repair; mitochondrial DNA replication; mitochondrial genome maintenance

Disease: Mitochondrial Dna Depletion Syndrome 11