TIMM22 Chromosome 17
Translocase of inner mitochondrial membrane 22
Upload your DNA to see your personal genotypes for variants in TIMM22.
What This Gene Does
Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
"TIM22 complex|Tim17 family"
Locus Type
gene with protein product
Location
17p13
Ensembl
ENSG00000177370
Associated Conditions (1)
Combined oxidative phosphorylation deficiency 43
Key Variants
RS146718482
Conflicting classifications of pathogenicity
Health Risk
RS149879547
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 43, Combined oxidative phosphorylation deficiency 43
Health Risk
RS754537066
Pathogenic
Combined oxidative phosphorylation deficiency 43, Combined oxidative phosphorylation deficiency 43
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146718482 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149879547 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 43, Combined oxidative phosphorylation deficiency 43 |
| RS754537066 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 43, Combined oxidative phosphorylation deficiency 43 |