mitochondrial genome maintenance exonuclease 1 (MGME1, C20orf72, DDK1)

Function

• metal-dependent single-stranded DNA (ssDNA) exonuclease
• involved in mitochondrial genome maintenance
• 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 repair, possibly via 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-containing DNA in stem cells

Structure

belongs to the MGME1 family

Compartment

mitochondria

Pathology

• defects in MGME1 are associated with mitochondrial DNA depletion syndrome 11

More general terms

• exonuclease
• mitochondrial protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=92667
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:92667
• OMIM: https://mirror.omim.org/entry/615076
• OMIM: https://mirror.omim.org/entry/615084
• UniProt: http://www.uniprot.org/uniprot/Q9BQP7.html