TIMM8A Gene
Translocase of Inner Mitochondrial Membrane 8A
Gene Information Card
| Symbol | TIMM8A |
|---|---|
| Full Name | Translocase of Inner Mitochondrial Membrane 8A |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 1678 ncbi.nlm.nih.gov/gene/1678 |
| Ensembl ID | ENSG00000126934 |
| UniProt ID | O60220 |
| OMIM ID | 300356 |
| HGNC ID | 11817 |
| Aliases | DDP1, MTS, DFN1, DDP, TIM8 |
Description
TIMM8A encodes a component of the mitochondrial intermembrane space import complex, specifically the TIM8-TIM13 complex, which facilitates the import of cysteine-rich proteins into the mitochondrial inner membrane. Mutations in this gene cause Mohr-Tranebjaerg syndrome (deafness-dystonia syndrome), an X-linked neurodegenerative disorder characterized by progressive sensorineural hearing loss, dystonia, and visual impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mohr-Tranebjaerg syndrome (Deafness-dystonia syndrome) | Loss of TIMM8A disrupts mitochondrial protein import, leading to mitochondrial dysfunction and neurodegeneration. | OMIM #304700; multiple reports of TIMM8A mutations in affected families. |
| X-linked sensorineural hearing loss | TIMM8A mutations impair mitochondrial function in cochlear cells, causing progressive hearing loss. | ClinVar; literature reports of DFN1 locus mutations. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 6.7 | Low |
| Heart | 4.2 | Low |
| Liver | 3.1 | Low |
| Kidney | 5.0 | Low |
| Testis | 8.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.2 | Moderate expression |
| HeLa | 5.8 | Low expression |
| SH-SY5Y | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109C>T (p.Arg37Ter) | Nonsense | Rare | Loss of function; premature truncation of TIMM8A protein. |
| c.133_134delAG (p.Ser45CysfsTer2) | Frameshift | Rare | Loss of function; frameshift leading to early termination. |
| c.238G>A (p.Gly80Arg) | Missense | Rare | Likely loss of function; disrupts protein stability or interaction. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause complete loss of TIMM8A function, leading to Mohr-Tranebjaerg syndrome.
Gain of Function (GOF)
No evidence of gain-of-function mutations in TIMM8A.
Dominant Negative (DN)
No evidence of dominant-negative effects; TIMM8A is X-linked and recessive.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial intermembrane space protein import (GO:0045041) | • Protein targeting to mitochondrion (GO:0006626) |
| • Mitochondrial outer membrane translocase complex (GO:0005742) |
Pathways
• Mitochondrial protein import (TIM8-TIM13 complex pathway)
Protein Summary
TIMM8A is a small protein (97 amino acids) localized to the mitochondrial intermembrane space. It forms a heterohexameric complex with TIMM13 to mediate the import of small cysteine-rich proteins, such as TIMM23, into the inner mitochondrial membrane. The protein contains a twin CX3C motif characteristic of the small Tim family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIMM8A Knockout HEK293 Cell Line | EDJ-KQ50237 | Human | 1678 | Details Get a Quote |
| TIMM8A Knockout HeLa Cell Line | EDJ-KQ53089 | Human | 1678 | Details Get a Quote |
| TIMM8A Knockout A-549 Cell Line | EDJ-KQ61556 | Human | 1678 | Details Get a Quote |
| TIMM8A Knockout HCT 116 Cell Line | EDJ-KQ70047 | Human | 1678 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
