TOMM7 Chromosome 7
Translocase of outer mitochondrial membrane 7
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What This Gene Does
This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012]
Gene Info
Gene Group
Translocase of outer mitochondrial membrane complex
Locus Type
gene with protein product
Location
7p15.3
Ensembl
ENSG00000196683
Associated Conditions (2)
Garg-Mishra progeroid syndrome
See cases
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS778567973 | Health Risk | Pathogenic | Garg-Mishra progeroid syndrome, Garg-Mishra progeroid syndrome |
| RS1782411099 | Health Risk | Pathogenic/Likely pathogenic | See cases, Garg-Mishra progeroid syndrome, See cases |