TIMM22 translocase of inner mitochondrial membrane 22
Gene ID: 29928, updated on 5-Mar-2024Gene type: protein coding
Also known as: TEX4; TIM22; COXPD43
- See all available tests in GTR for this gene
- Go to complete Gene record for TIMM22
- Go to Variation Viewer for TIMM22 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined oxidative phosphorylation deficiency 43 | See labs |
Genomic context
- Location:
- 17p13.3
- Sequence:
- Chromosome: 17; NC_000017.11 (997129..1003671)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TIMM22 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
- Variation ViewerRelated Variants
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