TIMMDC1 Gene - Translocase of Inner Mitochondrial Membrane Domain Containing 1
Mitochondrial import complex subunit and potential disease-associated gene
Gene Information Card
| Symbol | TIMMDC1 |
|---|---|
| Full Name | Translocase of Inner Mitochondrial Membrane Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 51300 ncbi.nlm.nih.gov/gene/51300 |
| Ensembl ID | ENSG00000113810 |
| UniProt ID | Q9NPL8 |
| OMIM ID | 615534 |
| HGNC ID | 25982 |
| Aliases | C3orf1, HSPC032, MGC12966 |
Description
TIMMDC1 encodes a protein that localizes to the inner mitochondrial membrane and is involved in the assembly of the mitochondrial respiratory chain complex I. It functions as a chaperone or assembly factor, facilitating the incorporation of subunits into complex I. Mutations in TIMMDC1 have been linked to mitochondrial complex I deficiency and associated neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 31 | Loss-of-function mutations impair complex I assembly, leading to reduced ATP production and oxidative stress | ClinVar, OMIM |
| Leigh syndrome | Biallelic TIMMDC1 variants cause early-onset neurodegeneration with complex I deficiency | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Brain | 8.1 | Medium |
| Liver | 6.3 | Low |
| Kidney | 7.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| HEK293 | 11.2 | Embryonic kidney cell line |
| SH-SY5Y | 7.5 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208C>T (p.Arg70*) | Nonsense | Rare | Loss of function; associated with complex I deficiency |
| c.404G>A (p.Arg135Gln) | Missense | Rare | Impaired protein stability; reduced complex I assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial inner membrane | • Protein-containing complex assembly |
| • NADH dehydrogenase (ubiquinone) activity |
Pathways
• Mitochondrial complex I assembly
• Oxidative phosphorylation
Protein Summary
TIMMDC1 is a 25.5 kDa protein with a transmembrane domain that anchors it to the inner mitochondrial membrane. It interacts with other assembly factors to stabilize and incorporate subunits into complex I of the electron transport chain. The protein is essential for normal mitochondrial respiration and energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIMMDC1 Knockout HEK293 Cell Line | EDJ-KQ11025 | Human | 51300 | Details Get a Quote |
| TIMMDC1 Knockout HCT 116 Cell Line | EDJ-KQ38917 | Human | 51300 | Details Get a Quote |
| TIMMDC1 Knockout HeLa Cell Line | EDJ-KQ38918 | Human | 51300 | Details Get a Quote |
| TIMMDC1 Knockout A-549 Cell Line | EDJ-KQ38916 | Human | 51300 | Details Get a Quote |
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