TIMM10B
Translocase of Inner Mitochondrial Membrane 10B
Gene Information Card
| Symbol | TIMM10B |
|---|---|
| Full Name | Translocase Of Inner Mitochondrial Membrane 10B |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 26519 ncbi.nlm.nih.gov/gene/26519 |
| Ensembl ID | ENSG00000148848 |
| UniProt ID | Q9Y5J6 |
| OMIM ID | 607388 |
| HGNC ID | 17313 |
| Aliases | TIM10B, TIM10, TIM9B, DDP2 |
Description
TIMM10B encodes a component of the mitochondrial inner membrane translocase complex (TIM22 complex) that mediates the import and insertion of polytopic inner membrane proteins. The protein is a small zinc-finger chaperone that binds to hydrophobic precursors in the intermembrane space.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deafness dystonia syndrome | Impaired mitochondrial protein import due to TIMM10B dysfunction | OMIM 607388 |
| Mitochondrial disease (general) | Defective TIM22 complex assembly | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Liver | 6.2 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression |
| HeLa | 11.0 | Medium expression |
| K562 | 8.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80Trp) | Missense | <0.01% | Unknown functional impact |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start-loss and nonsense variants predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial intermembrane space | • Protein import into mitochondrial inner membrane |
| • Zinc ion binding | • TIM22 mitochondrial import complex |
Pathways
• Mitochondrial protein import (TIM22 complex)
Protein Summary
TIMM10B is a 10 kDa zinc-finger protein localized to the mitochondrial intermembrane space. It functions as a chaperone within the TIM22 complex, facilitating the insertion of multi-spanning inner membrane proteins such as metabolite carriers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIMM10B Knockout HEK293 Cell Line | EDJ-KQ8541 | Human | 26515 | Details Get a Quote |
| TIMM10B Knockout HCT 116 Cell Line | EDJ-KQ33381 | Human | 26515 | Details Get a Quote |
| TIMM10B Knockout A-549 Cell Line | EDJ-KQ34686 | Human | 26515 | Details Get a Quote |
| TIMM10B Knockout HeLa Cell Line | EDJ-KQ34687 | Human | 26515 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
