TIMM22: Translocase of Inner Mitochondrial Membrane 22
A key component of the mitochondrial TIM22 complex involved in protein import and inner membrane insertion.
Gene Information Card
| Symbol | TIMM22 |
|---|---|
| Full Name | Translocase of Inner Mitochondrial Membrane 22 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 29928 ncbi.nlm.nih.gov/gene/29928 |
| Ensembl ID | ENSG00000108298 |
| UniProt ID | Q9Y584 |
| OMIM ID | 607381 |
| HGNC ID | 17317 |
| Aliases | TIM22, TIM22A, hTIM22 |
Description
TIMM22 encodes a component of the mitochondrial TIM22 complex, which mediates the import and insertion of multi-pass transmembrane proteins into the inner mitochondrial membrane. The protein is essential for mitochondrial biogenesis and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease (general) | Impaired protein import leads to mitochondrial dysfunction | ClinVar, OMIM |
| Hearing loss, autosomal recessive | Disruption of mitochondrial inner membrane protein insertion | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.1 | Medium |
| Kidney | 7.9 | Medium |
| Brain | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | High expression |
| HEK293 | 11.8 | Moderate expression |
| K562 | 9.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | Rare | Unknown functional impact |
| c.1A>G (p.Met1?) | Start loss | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations likely cause loss of function by preventing translation.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane | • protein transmembrane transport |
| • TIM22 mitochondrial import complex | • protein import into mitochondrial inner membrane |
Pathways
• Mitochondrial protein import (TIM22 complex)
Protein Summary
TIMM22 is a 22 kDa protein that forms part of the TIM22 complex in the inner mitochondrial membrane. It acts as a translocase for the import of polytopic membrane proteins, including metabolite carriers, from the intermembrane space into the inner membrane.
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