MGME1
Mitochondrial Genome Maintenance Exonuclease 1
Gene Information Card
| Symbol | MGME1 |
|---|---|
| Full Name | Mitochondrial Genome Maintenance Exonuclease 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 92667 ncbi.nlm.nih.gov/gene/92667 |
| Ensembl ID | ENSG00000125871 |
| UniProt ID | Q9BQP7 |
| OMIM ID | 615076 |
| HGNC ID | 16204 |
| Aliases | C20orf72, DKFZp686A01242, FLJ13391, MGC138499 |
Description
The MGME1 gene encodes mitochondrial genome maintenance exonuclease 1, a mitochondrial nuclease involved in mtDNA replication and repair. It processes mtDNA flaps and removes RNA primers during replication, essential for maintaining mitochondrial genome integrity. Mutations cause mitochondrial DNA depletion syndrome 11 (MTDPS11).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome 11 (MTDPS11) | Loss-of-function mutations impair mtDNA replication, leading to mtDNA depletion and multiple deletions. | OMIM #615076; ClinVar; PMID: 23197650 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions | MGME1 deficiency causes accumulation of mtDNA deletions in muscle, leading to ophthalmoplegia. | PMID: 23197650; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 5.2 | Medium |
| Heart | 4.8 | Medium |
| Liver | 3.1 | Low |
| Brain | 2.5 | Low |
| Testis | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 4.3 | RNA-seq data from GTEx |
| K562 | 3.9 | RNA-seq data from GTEx |
| HepG2 | 3.5 | RNA-seq data from GTEx |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.233A>G (p.Asn78Ser) | Missense | Rare | Reduced exonuclease activity; associated with MTDPS11 |
| c.370C>T (p.Arg124Trp) | Missense | Rare | Loss of function; mtDNA depletion |
| c.494G>A (p.Arg165Gln) | Missense | Rare | Impaired mtDNA replication |
Mutation functional classification
Loss of Function (LOF)
Most MGME1 mutations are loss-of-function, reducing or abolishing exonuclease activity, leading to mtDNA depletion and multiple deletions.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • exonuclease activity | • mitochondrion |
| • DNA replication | • DNA repair |
| • nucleic acid binding | • mitochondrial genome maintenance |
Pathways
• Mitochondrial DNA replication
• Mitochondrial genome maintenance
Protein Summary
MGME1 is a mitochondrial exonuclease that processes single-stranded DNA flaps and removes RNA primers during mtDNA replication. It is essential for maintaining mitochondrial genome integrity. The protein localizes to the mitochondrial matrix and interacts with other mtDNA replication factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MGME1 Knockout HEK293 Cell Line | EDJ-KQ11015 | Human | 92667 | Details Get a Quote |
| MGME1 Knockout A-549 Cell Line | EDJ-KQ38897 | Human | 92667 | Details Get a Quote |
| MGME1 Knockout HCT 116 Cell Line | EDJ-KQ38898 | Human | 92667 | Details Get a Quote |
| MGME1 Knockout HeLa Cell Line | EDJ-KQ38899 | Human | 92667 | Details Get a Quote |
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