TIMM17A
Translocase of Inner Mitochondrial Membrane 17A
Gene Information Card
| Symbol | TIMM17A |
|---|---|
| Full Name | Translocase Of Inner Mitochondrial Membrane 17A |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 10440 ncbi.nlm.nih.gov/gene/10440 |
| Ensembl ID | ENSG00000134250 |
| UniProt ID | Q9Y2J8 |
| OMIM ID | 605057 |
| HGNC ID | 17314 |
| Aliases | TIM17A, TIM17, TIM17B |
Description
TIMM17A encodes a core component of the TIM23 complex, which mediates the translocation of nuclear-encoded proteins across the mitochondrial inner membrane. The protein is essential for mitochondrial biogenesis and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex deficiency | Impaired protein import leads to defective oxidative phosphorylation | ClinVar, OMIM |
| Hereditary spastic paraplegia | Disrupted mitochondrial dynamics and transport | ClinVar |
| Cancer | Altered mitochondrial import affects metabolism and apoptosis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Brain | 6.7 | Low |
| Skeletal Muscle | 14.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | High expression |
| HEK293 | 11.2 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown |
| c.340G>A (p.Gly114Arg) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Impaired mitochondrial import leading to respiratory chain defects
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane | • protein transmembrane transporter activity |
| • protein import into mitochondrial inner membrane | • mitochondrial translocase complex |
Pathways
• Mitochondrial protein import (TIM23 complex)
Protein Summary
TIMM17A is a 17 kDa integral membrane protein of the mitochondrial inner membrane. It forms part of the TIM23 translocase complex, which recognizes presequence-containing precursor proteins and facilitates their import into the mitochondrial matrix. The protein is essential for mitochondrial function and cellular energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIMM17A Knockout HEK293 Cell Line | EDJ-KQ7048 | Human | 10440 | Details Get a Quote |
| TIMM17A Knockout A-549 Cell Line | EDJ-KQ31827 | Human | 10440 | Details Get a Quote |
| TIMM17A Knockout HCT 116 Cell Line | EDJ-KQ31828 | Human | 10440 | Details Get a Quote |
| TIMM17A Knockout HeLa Cell Line | EDJ-KQ31829 | Human | 10440 | Details Get a Quote |
