Entity Details
| Primary name |
MGME1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9BQP7 |
| EntryName | MGME1_HUMAN |
| FullName | Mitochondrial genome maintenance exonuclease 1 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 344 |
| SequenceStatus | complete |
| DateCreated | 2002-11-25 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Mitochondrion |
Domains
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| Domain | Name | Category | Type |
| IPR011335 | Restriction endonuclease type II-like | Family | Homologous superfamily |
| IPR038726 | PD-(D/E)XK endonuclease-like domain, AddAB-type | Domain | Domain |
Diseases
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| Disease ID | Source | Name | Description |
| 615084 | OMIM | Mitochondrial DNA depletion syndrome 11 (MTDPS11) | An autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia, muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities. The disease may be caused by variants affecting the gene represented in this entry. |
Interactions
4 interactions