Identity
HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
MGCA9,TIM50,TIM50L
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: 92609
MIM: 607381
HGNC: 23656
Ensembl: ENSG00000105197
Variants:
dbSNP: 92609
ClinVar: 92609
TCGA: ENSG00000105197
COSMIC: TIMM50
RNA/Proteins
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 |
|---|---|---|---|
| 35019165 | 2022 | Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families. | 3 |
| 35019165 | 2022 | Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families. | 3 |
| 32369862 | 2020 | Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation. | 4 |
| 32810522 | 2020 | MiR-7 mediates mitochondrial impairment to trigger apoptosis and necroptosis in Rhabdomyosarcoma. | 14 |
| 32369862 | 2020 | Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation. | 4 |
| 32810522 | 2020 | MiR-7 mediates mitochondrial impairment to trigger apoptosis and necroptosis in Rhabdomyosarcoma. | 14 |
| 30348838 | 2019 | Inner Mitochondrial Translocase Tim50 Is Central in Adrenal and Testicular Steroid Synthesis. | 6 |
| 30604908 | 2019 | TIMM50 promotes tumor progression via ERK signaling and predicts poor prognosis of non-small cell lung cancer patients. | 15 |
| 31058414 | 2019 | Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology. | 9 |
| 30348838 | 2019 | Inner Mitochondrial Translocase Tim50 Is Central in Adrenal and Testicular Steroid Synthesis. | 6 |
| 30604908 | 2019 | TIMM50 promotes tumor progression via ERK signaling and predicts poor prognosis of non-small cell lung cancer patients. | 15 |
| 31058414 | 2019 | Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology. | 9 |
| 30190335 | 2018 | Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions. | 19 |
| 30190335 | 2018 | Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions. | 19 |
| 27573165 | 2017 | Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. | 17 |
Citation
Dessen P
TIMM50 (translocase of inner mitochondrial membrane 50)
Atlas Genet Cytogenet Oncol Haematol. 2011-10-01
Online version: http://atlasgeneticsoncology.org/gene/52410/timm50
