TIMM13 Gene - Translocase of Inner Mitochondrial Membrane 13
Essential Component of the Mitochondrial TIM22 Import Complex
Gene Information Card
| Symbol | TIMM13 |
|---|---|
| Full Name | Translocase of Inner Mitochondrial Membrane 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 26517 ncbi.nlm.nih.gov/gene/26517 |
| Ensembl ID | ENSG00000105656 |
| UniProt ID | Q9Y5L4 |
| OMIM ID | 607383 |
| HGNC ID | 11816 |
| Aliases | TIM13, TIM13B, DDP2, MGC:26517 |
Description
TIMM13 encodes a 10 kDa protein that is a subunit of the TIM22 complex, which mediates the import and insertion of polytopic inner mitochondrial membrane proteins. The protein forms a heterohexameric complex with TIMM8A (DDP1) and is essential for mitochondrial protein translocation. Mutations in TIMM13 are associated with Mohr-Tranebjaerg syndrome (deafness-dystonia syndrome).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mohr-Tranebjaerg Syndrome (Deafness-Dystonia Syndrome) | Loss of TIMM13 function disrupts TIM22 complex assembly, impairing import of mitochondrial carrier proteins and leading to neurodegeneration and sensorineural hearing loss. | ClinVar, OMIM |
| Mitochondrial Complex Deficiency | Defective mitochondrial protein import due to TIMM13 mutations reduces oxidative phosphorylation capacity. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Brain | 8.7 | Medium |
| Liver | 6.1 | Low |
| Skeletal Muscle | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | High expression |
| HeLa | 11.8 | Medium expression |
| K562 | 9.2 | Medium expression |
| SH-SY5Y | 7.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80Trp) | Missense | Rare | Loss of protein stability and complex formation |
| c.149_150delAG (p.Glu50Valfs*12) | Frameshift | Rare | Premature truncation, loss of function |
| c.1A>G (p.Met1Val) | Start loss | Rare | No protein translation |
Mutation functional classification
Loss of Function (LOF)
Most TIMM13 mutations are loss-of-function, leading to reduced TIM22 complex assembly and impaired mitochondrial import.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial inner membrane | • Protein transport |
| • TIM22 mitochondrial import complex | • Protein transmembrane transporter activity |
Pathways
• Mitochondrial protein import (TIM22 complex)
• Mitochondrial carrier protein import
Protein Summary
TIMM13 is a small, cysteine-rich protein localized to the mitochondrial inner membrane. It forms a stable complex with TIMM8A, which is part of the TIM22 translocase. The protein contains a zinc finger-like motif and is essential for the import of metabolite carrier proteins into the mitochondrial inner membrane.
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