Identity
HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
ACAD6,LCACD,VLCAD
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: 37
MIM: 609575
HGNC: 92
Ensembl: ENSG00000072778
Variants:
dbSNP: 37
ClinVar: 37
TCGA: ENSG00000072778
COSMIC: ACADVL
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36894992 | 2023 | Hypermethylation of ACADVL is involved in the high-intensity interval training-associated reduction of cardiac fibrosis in heart failure patients. | 2 |
| 37549443 | 2023 | Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation. | 0 |
| 36894992 | 2023 | Hypermethylation of ACADVL is involved in the high-intensity interval training-associated reduction of cardiac fibrosis in heart failure patients. | 2 |
| 37549443 | 2023 | Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation. | 0 |
| 35001339 | 2022 | VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis. | 3 |
| 35218577 | 2022 | Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening. | 4 |
| 35760926 | 2022 | Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency. | 3 |
| 36078043 | 2022 | Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics. | 2 |
| 35001339 | 2022 | VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis. | 3 |
| 35218577 | 2022 | Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening. | 4 |
| 35760926 | 2022 | Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency. | 3 |
| 36078043 | 2022 | Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics. | 2 |
| 34704412 | 2021 | Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province. | 4 |
| 34704412 | 2021 | Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province. | 4 |
| 31794763 | 2020 | One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency. | 2 |
Citation
Dessen P
ACADVL (acyl-CoA dehydrogenase very long chain)
Atlas Genet Cytogenet Oncol Haematol. 2008-03-01
Online version: http://atlasgeneticsoncology.org/gene/50037/acadvl
