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: 54968
MIM: 612418
HGNC: 26050
Ensembl: ENSG00000175606
Variants:
dbSNP: 54968
ClinVar: 54968
TCGA: ENSG00000175606
COSMIC: TMEM70
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000175606 | ENST00000312184 | Q9BUB7 |
| ENSG00000175606 | ENST00000416961 | D4PHA6 |
| ENSG00000175606 | ENST00000517439 | Q9BUB7 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33359711 | 2021 | TMEM70 forms oligomeric scaffolds within mitochondrial cristae promoting in situ assembly of mammalian ATP synthase proton channel. | 6 |
| 33753518 | 2021 | TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I. | 15 |
| 33359711 | 2021 | TMEM70 forms oligomeric scaffolds within mitochondrial cristae promoting in situ assembly of mammalian ATP synthase proton channel. | 6 |
| 33753518 | 2021 | TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I. | 15 |
| 31729175 | 2020 | Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis. | 1 |
| 32275929 | 2020 | TMEM70 functions in the assembly of complexes I and V. | 22 |
| 31729175 | 2020 | Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis. | 1 |
| 32275929 | 2020 | TMEM70 functions in the assembly of complexes I and V. | 22 |
| 30950220 | 2019 | TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation. | 2 |
| 30950220 | 2019 | TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation. | 2 |
| 25825456 | 2016 | Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family. | 13 |
| 25825456 | 2016 | Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family. | 13 |
| 25326274 | 2015 | TMEM70 deficiency: long-term outcome of 48 patients. | 20 |
| 26550569 | 2015 | ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. | 5 |
| 25326274 | 2015 | TMEM70 deficiency: long-term outcome of 48 patients. | 20 |
Citation
Dessen P
TMEM70 (transmembrane protein 70)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74972/tmem70-(transmembrane-protein-70)
