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: 2110
MIM: 231675
HGNC: 3483
Ensembl: ENSG00000171503
Variants:
dbSNP: 2110
ClinVar: 2110
TCGA: ENSG00000171503
COSMIC: ETFDH
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000171503 | ENST00000307738 | Q16134 |
| ENSG00000171503 | ENST00000507475 | D6RAD5 |
| ENSG00000171503 | ENST00000511912 | Q16134 |
| ENSG00000171503 | ENST00000512251 | D6RJF8 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA447197 | Attention Deficit Disorder with Hyperactivity | Disease | ClinicalAnnotation | associated | PD | 29382897 | |
| PA450464 | methylphenidate | Chemical | ClinicalAnnotation | associated | PD | 29382897 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33823724 | 2021 | ETF dehydrogenase advances in molecular genetics and impact on treatment. | 15 |
| 34704421 | 2021 | Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients. | 5 |
| 34782606 | 2021 | Multiple acyl-CoA dehydrogenase deficiency kills Mycobacterium tuberculosis in vitro and during infection. | 10 |
| 33823724 | 2021 | ETF dehydrogenase advances in molecular genetics and impact on treatment. | 15 |
| 34704421 | 2021 | Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients. | 5 |
| 34782606 | 2021 | Multiple acyl-CoA dehydrogenase deficiency kills Mycobacterium tuberculosis in vitro and during infection. | 10 |
| 32393189 | 2020 | A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family. | 7 |
| 32804429 | 2020 | Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. | 4 |
| 33000234 | 2020 | Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency. | 1 |
| 32393189 | 2020 | A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family. | 7 |
| 32804429 | 2020 | Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. | 4 |
| 33000234 | 2020 | Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency. | 1 |
| 31418342 | 2019 | Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency. | 5 |
| 31598946 | 2019 | [Analysis of ETFDH gene variation in a Chinese family affected with lipid storage myopathy]. | 0 |
| 31704152 | 2019 | Expression and significance of ETFDH in hepatocellular carcinoma. | 9 |
Citation
Dessen P
ETFDH (electron transfer flavoprotein dehydrogenase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62928/etfdh-(electron-transfer-flavoprotein-dehydrogenase)
