TIMM29: Translocase of Inner Mitochondrial Membrane 29
Mitochondrial import complex subunit involved in protein translocation and mitochondrial function
Gene Information Card
| Symbol | TIMM29 |
|---|---|
| Full Name | Translocase of Inner Mitochondrial Membrane 29 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 123591 ncbi.nlm.nih.gov/gene/123591 |
| Ensembl ID | ENSG00000167601 |
| UniProt ID | Q9BVV7 |
| OMIM ID | 616252 |
| HGNC ID | 28673 |
| Aliases | TIM29, TIM29L, C19orf52, HSPC317 |
Description
TIMM29 (Translocase of Inner Mitochondrial Membrane 29) encodes a component of the mitochondrial import machinery. The protein is part of the TIM22 complex, which mediates the insertion of multi-pass transmembrane proteins into the inner mitochondrial membrane. TIMM29 is essential for mitochondrial protein import and cristae organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex deficiency | Impaired protein import leading to mitochondrial dysfunction | ClinVar: pathogenic variants associated with mitochondrial disease |
| Combined oxidative phosphorylation deficiency | Defective TIM22 complex assembly | OMIM: 616252 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Kidney | 7.1 | Medium |
| Brain | 5.2 | Low |
| Skeletal Muscle | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 9.5 | Embryonic kidney cells |
| HepG2 | 8.9 | Hepatocellular carcinoma |
| K562 | 6.3 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.208C>T (p.Arg70Trp) | Missense | Rare | Impaired protein stability |
| c.334G>A (p.Gly112Arg) | Missense | Rare | Reduced TIM22 complex assembly |
Mutation functional classification
Loss of Function (LOF)
Pathogenic missense and truncating variants reduce TIMM29 protein levels or disrupt TIM22 complex assembly, leading to mitochondrial import defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established; recessive inheritance pattern suggested.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane (GO:0005743) | • protein transporter activity (GO:0008565) |
| • protein transport (GO:0015031) | • mitochondrial import (GO:0042719) |
Pathways
• Mitochondrial protein import (TIM22 complex)
• Organelle biogenesis and maintenance
Protein Summary
TIMM29 is a 29 kDa subunit of the TIM22 complex located in the inner mitochondrial membrane. It facilitates the import and insertion of polytopic membrane proteins, including metabolite carriers. The protein contains a transmembrane domain and interacts with other TIM22 components such as TIMM22 and TIMM9.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIMM29 Knockout HEK293 Cell Line | EDJ-KQ10618 | Human | 90580 | Details Get a Quote |
| TIMM29 Knockout A-549 Cell Line | EDJ-KQ38113 | Human | 90580 | Details Get a Quote |
| TIMM29 Knockout HCT 116 Cell Line | EDJ-KQ38114 | Human | 90580 | Details Get a Quote |
| TIMM29 Knockout HeLa Cell Line | EDJ-KQ38115 | Human | 90580 | Details Get a Quote |
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