Identity
HGNC
LOCATION
Xq22.1
LOCUSID
ALIAS
DDP,DDP1,DFN1,MTS,TIM8
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1678
MIM: 300356
HGNC: 11817
Ensembl: ENSG00000126953
Variants:
dbSNP: 1678
ClinVar: 1678
TCGA: ENSG00000126953
COSMIC: TIMM8A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000126953 | ENST00000372902 | O60220 |
| ENSG00000126953 | ENST00000644112 | A0A2R8YDA8 |
| ENSG00000126953 | ENST00000645279 | A0A2R8YDA8 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism of proteins | REACTOME | R-HSA-392499 |
| Mitochondrial protein import | REACTOME | R-HSA-1268020 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38548519 | 2024 | Exploring the Oncogenic Potential of TIMM8A: A Crucial Factor in Breast Cancer Tumorigenesis. | 0 |
| 38548519 | 2024 | Exploring the Oncogenic Potential of TIMM8A: A Crucial Factor in Breast Cancer Tumorigenesis. | 0 |
| 32820032 | 2021 | Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment. | 8 |
| 32820032 | 2021 | Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment. | 8 |
| 31682224 | 2019 | Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome. | 19 |
| 31682224 | 2019 | Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome. | 19 |
| 23418071 | 2013 | The syndrome of deafness-dystonia: clinical and genetic heterogeneity. | 14 |
| 23418071 | 2013 | The syndrome of deafness-dystonia: clinical and genetic heterogeneity. | 14 |
| 21984432 | 2012 | Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. | 6 |
| 21984432 | 2012 | Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. | 6 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 17534980 | 2007 | Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene. | 5 |
Citation
Dessen P
TIMM8A (translocase of inner mitochondrial membrane 8A)
Atlas Genet Cytogenet Oncol Haematol. 2003-10-01
Online version: http://atlasgeneticsoncology.org/gene/42568/timm8a
