| Entrez Gene ID | 37 |
|---|---|
| Official Gene Symbol | ACADVL (GeneCards) |
| Full name | acyl-CoA dehydrogenase very long chain |
| Location | 17p13.1 |
| Other ids | Vega : OTTHUMG00000102157 MIM : 609575 HGNC : HGNC:92 Ensembl : ENSG00000072778 |
| Other names | ACAD6, LCACD, VLCAD |
| Summary | The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1035 | 37 | ACADVL | 17 | 7124263 | 7124263 | Human Skin Fibroblasts | HiSeq 2500 |