MGME1 mitochondrial genome maintenance exonuclease 1
Gene ID: 92667, updated on 2-Nov-2024Gene type: protein coding
Also known as: DDK1; MTDPS11; C20orf72; bA504H3.4
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- Go to complete Gene record for MGME1
- Go to Variation Viewer for MGME1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Mitochondrial DNA depletion syndrome 11 | See labs |
Genomic context
- Location:
- 20p11.23
- Sequence:
- Chromosome: 20; NC_000020.11 (17968590..17991122)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MGME1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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