TIMM17B
Translocase of Inner Mitochondrial Membrane 17B
Gene Information Card
| Symbol | TIMM17B |
|---|---|
| Full Name | Translocase of Inner Mitochondrial Membrane 17B |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 10245 ncbi.nlm.nih.gov/gene/10245 |
| Ensembl ID | ENSG00000100181 |
| UniProt ID | O60830 |
| OMIM ID | 300303 |
| HGNC ID | 17316 |
| Aliases | TIM17B, TIM17-2, DXS2535E |
Description
TIMM17B encodes a component of the TIM23 complex, which mediates the translocation of nuclear-encoded proteins across the inner mitochondrial membrane. The protein is essential for mitochondrial protein import and cellular energy metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deafness, X-linked 5 (DFNX5) | Loss-of-function mutations in TIMM17B impair mitochondrial protein import, leading to sensorineural hearing loss. | ClinVar, OMIM |
| Mitochondrial complex I deficiency | Defective TIMM17B disrupts import of complex I subunits, reducing oxidative phosphorylation. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Skeletal muscle | 8.2 | Medium |
| Liver | 4.1 | Low |
| Brain | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.1 | Medium expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function; associated with DFNX5 |
| c.307G>A (p.Gly103Ser) | Missense | Rare | Impaired TIM23 complex assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the transmembrane domain lead to loss of translocase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations may interfere with TIM23 complex assembly, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial inner membrane | • Protein transmembrane transport |
| • TIM23 mitochondrial import complex | • Protein import into mitochondrial inner membrane |
Pathways
• Mitochondrial protein import (TIM23 pathway)
• Oxidative phosphorylation
Protein Summary
TIMM17B is a 172-amino acid protein with two transmembrane domains, forming part of the TIM23 translocase. It interacts with TIMM23 and TIMM44 to facilitate preprotein translocation. The protein is ubiquitously expressed with highest levels in testis and heart.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIMM17B Knockout HEK293 Cell Line | EDJ-KQ6970 | Human | 10245 | Details Get a Quote |
| TIMM17B Knockout HeLa Cell Line | EDJ-KQ30286 | Human | 10245 | Details Get a Quote |
| TIMM17B Knockout A-549 Cell Line | EDJ-KQ31666 | Human | 10245 | Details Get a Quote |
| TIMM17B Knockout HCT 116 Cell Line | EDJ-KQ31667 | Human | 10245 | Details Get a Quote |
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