TIMM21: Translocase of Inner Mitochondrial Membrane 21
Mitochondrial protein import component and its role in cellular energetics
Gene Information Card
| Symbol | TIMM21 |
|---|---|
| Full Name | Translocase of Inner Mitochondrial Membrane 21 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q23 |
| NCBI Gene ID | 29080 ncbi.nlm.nih.gov/gene/29080 |
| Ensembl ID | ENSG00000101557 |
| UniProt ID | Q9BVV7 |
| OMIM ID | 615405 |
| HGNC ID | 17310 |
| Aliases | TIM21, TIM21L, HSPC260 |
Description
TIMM21 encodes a component of the mitochondrial inner membrane translocase complex (TIM23). The protein TIM21 is involved in the import of nuclear-encoded precursor proteins into the mitochondrial matrix and inner membrane. It interacts with the TIM23 complex and the respiratory chain supercomplexes, facilitating efficient protein translocation and mitochondrial biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency | Impaired protein import affecting complex I assembly | ClinVar: pathogenic variants reported |
| Combined oxidative phosphorylation deficiency | Defective mitochondrial import leads to multiple OXPHOS deficiencies | OMIM: 615405 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.1 | Low |
| Brain | 7.4 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 11.8 | Medium expression |
| K562 | 9.4 | Medium expression |
| HepG2 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208C>T (p.Arg70Trp) | Missense | Rare | Likely loss of function; reduced protein stability |
| c.325G>A (p.Gly109Ser) | Missense | Rare | Unknown significance; predicted damaging |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg70Trp) reduce TIM21 stability and impair mitochondrial import.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative mechanisms described.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane (GO:0005743) | • protein transporter activity (GO:0008565) |
| • protein transport (GO:0015031) | • protein import into mitochondrial matrix (GO:0030150) |
| • mitochondrial intermembrane space protein import (GO:0042719) |
Pathways
• Mitochondrial protein import (TIM23 complex)
• Respiratory electron transport (indirect via complex I assembly)
Protein Summary
TIM21 is a 21 kDa protein localized to the mitochondrial inner membrane. It acts as a receptor for the TIM23 translocase complex, binding presequence-containing precursor proteins and facilitating their import. TIM21 also links the import machinery to respiratory chain supercomplexes, coupling protein import with oxidative phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIMM21 Knockout HEK293 Cell Line | EDJ-KQ8977 | Human | 29090 | Details Get a Quote |
| TIMM21 Knockout A-549 Cell Line | EDJ-KQ35398 | Human | 29090 | Details Get a Quote |
| TIMM21 Knockout HCT 116 Cell Line | EDJ-KQ35399 | Human | 29090 | Details Get a Quote |
| TIMM21 Knockout HeLa Cell Line | EDJ-KQ35400 | Human | 29090 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
