TIMM9: Translocase of Inner Mitochondrial Membrane 9
Mitochondrial import complex subunit TIMM9, essential for protein translocation into the mitochondrial inner membrane
Gene Information Card
| Symbol | TIMM9 |
|---|---|
| Full Name | Translocase of Inner Mitochondrial Membrane 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 26520 ncbi.nlm.nih.gov/gene/26520 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9Y5J7 |
| OMIM ID | 607381 |
| HGNC ID | 11818 |
| Aliases | TIM9, TIM9A, TIMM9A |
Description
TIMM9 encodes a component of the mitochondrial import complex that mediates translocation of proteins across the inner mitochondrial membrane. The protein forms a heterohexameric complex with TIMM10 and TIMM8, functioning as a chaperone for hydrophobic precursor proteins in the intermembrane space. TIMM9 is essential for mitochondrial biogenesis and cellular respiration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Impaired import of nuclear-encoded subunits of cytochrome c oxidase | ClinVar, OMIM |
| Hearing loss, autosomal recessive 155 | Missense mutations affecting protein stability | ClinVar, OMIM |
| Combined oxidative phosphorylation deficiency | Defective mitochondrial protein import leading to multiple respiratory chain defects | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 10.8 | High |
| Liver | 8.2 | Medium |
| Kidney | 7.9 | Medium |
| Brain | 6.1 | Medium |
| Lung | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | High expression |
| HEK293 | 11.0 | High expression |
| K562 | 7.8 | Medium expression |
| HepG2 | 6.5 | Medium expression |
| A549 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80Cys) | Missense | Rare | Reduced protein stability; associated with hearing loss |
| c.316G>A (p.Gly106Ser) | Missense | Rare | Impaired complex formation with TIMM10 |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of translation initiation; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg80Cys) reduce protein stability and impair mitochondrial import, leading to respiratory chain deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for TIMM9.
Dominant Negative (DN)
Heterozygous missense variants may disrupt heterohexameric complex assembly, exerting dominant-negative effects on mitochondrial import.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • mitochondrial inner membrane (GO:0005743) |
| • protein transporter activity (GO:0008565) | • protein transport (GO:0015031) |
| • mitochondrial intermembrane space protein import (GO:0042719) | • mitochondrion organization (GO:0007005) |
Pathways
• Mitochondrial protein import (Reactome: R-HSA-1268020)
• TIM22 complex-mediated import (Reactome: R-HSA-1299308)
Protein Summary
TIMM9 is a small (10 kDa) zinc-binding protein localized to the mitochondrial intermembrane space. It forms a hexameric complex with TIMM10 and TIMM8 that functions as a chaperone for hydrophobic carrier proteins, facilitating their insertion into the inner membrane via the TIM22 complex. The protein contains a conserved twin CX3C motif essential for zinc coordination and structural integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIMM9 Knockout HEK293 Cell Line | EDJ-KQ51185 | Human | 26520 | Details Get a Quote |
| TIMM9 Knockout HeLa Cell Line | EDJ-KQ55942 | Human | 26520 | Details Get a Quote |
| TIMM9 Knockout A-549 Cell Line | EDJ-KQ64429 | Human | 26520 | Details Get a Quote |
| TIMM9 Knockout HCT 116 Cell Line | EDJ-KQ72884 | Human | 26520 | Details Get a Quote |
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