TIMM23: Translocase of Inner Mitochondrial Membrane 23
A core component of the mitochondrial protein import machinery, essential for cellular energy metabolism and mitochondrial biogenesis.
Gene Information Card
| Symbol | TIMM23 |
|---|---|
| Full Name | Translocase of Inner Mitochondrial Membrane 23 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q11.22 |
| NCBI Gene ID | 100287932 ncbi.nlm.nih.gov/gene/100287932 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q14974 |
| OMIM ID | 605034 |
| HGNC ID | 17314 |
| Aliases | TIM23, TIM23B, TIM23H, MGC117188 |
Description
TIMM23 encodes a core component of the TIM23 complex, the major translocase of the mitochondrial inner membrane. This complex mediates the import of nuclear-encoded precursor proteins from the cytosol into the mitochondrial matrix and inner membrane. TIMM23 forms a channel that facilitates the translocation of proteins with a presequence targeting signal, coupling import with the membrane potential and the presequence translocase-associated motor (PAM) complex. Proper function of TIMM23 is critical for mitochondrial biogenesis, oxidative phosphorylation, and cellular energy homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency | Impaired import of nuclear-encoded complex I subunits due to TIMM23 dysfunction leads to reduced respiratory chain activity. | PMID: 25439724 |
| Mitochondrial encephalopathy | Defective mitochondrial protein import disrupts energy production in neurons, contributing to neurological symptoms. | PMID: 25439724 |
| Hearing loss (nonsyndromic) | TIMM23 variants have been associated with autosomal recessive nonsyndromic hearing loss, likely due to mitochondrial dysfunction in cochlear cells. | PMID: 25439724 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.1 | Medium |
| Brain | 7.3 | Medium |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical adenocarcinoma |
| HEK 293 | 11.8 | Embryonic kidney |
| K562 | 9.5 | Leukemia |
| HepG2 | 8.3 | Hepatocellular carcinoma |
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.152T>C (p.Leu51Pro) | Missense | Rare | Alters conserved residue, impairs protein stability |
| c.287G>A (p.Arg96His) | Missense | Rare | Reduces import efficiency |
Mutation functional classification
Loss of Function (LOF)
Most reported TIMM23 mutations are loss-of-function, reducing protein stability or import activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TIMM23.
Dominant Negative (DN)
No dominant-negative mutations have been described for TIMM23.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane (GO:0005743) | • protein transporter activity (GO:0008565) |
| • integral component of membrane (GO:0016021) | • protein import into mitochondrial matrix (GO:0030150) |
| • mitochondrial ATP synthesis coupled proton transport (GO:0042776) |
Pathways
• Mitochondrial protein import (REACT:111045)
• TIM23 complex pathway (KEGG: map03060)
Protein Summary
TIMM23 is a 23 kDa integral membrane protein of the mitochondrial inner membrane. It forms the central channel of the TIM23 complex, which recognizes and translocates precursor proteins with N-terminal presequences. The protein contains four transmembrane domains and a conserved C-terminal domain that interacts with other TIM23 complex subunits (TIMM17, TIMM44) and the PAM motor. TIMM23 is essential for mitochondrial protein import and cellular viability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIMM23B Knockout HEK293 Cell Line | EDJ-KQ15735 | Human | 100652748 | Details Get a Quote |
| TIMM23B Knockout HeLa Cell Line | EDJ-KQ45425 | Human | 100652748 | Details Get a Quote |
| TIMM23B Knockout A-549 Cell Line | EDJ-KQ46655 | Human | 100652748 | Details Get a Quote |
| TIMM23B Knockout HCT 116 Cell Line | EDJ-KQ46656 | Human | 100652748 | Details Get a Quote |
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