Disease-gene associations mined from literature

Literature associating MGME1 and mitochondrial DNA depletion syndrome 14

MGME1 [ENSP00000366939]

Mitochondrial genome maintenance exonuclease 1; 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; Belongs to the MGME1 family.

Synonyms:  MGME1,  MGME1p,  hMGME1,  Q5QPE7,  Q5QPE8 ...

Linkouts:  STRING  Pharos  UniProt