ACADL Chromosome 2
Acyl-CoA dehydrogenase long chain
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What This Gene Does
The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Acyl-CoA dehydrogenase family|Flavoproteins"
Locus Type
gene with protein product
Location
2q34
Ensembl
ENSG00000115361
Associated Conditions (1)
Long chain acyl-CoA dehydrogenase deficiency
Key Variants
RS146511220
Conflicting classifications of pathogenicity
Long chain acyl-CoA dehydrogenase deficiency, Long chain acyl-CoA dehydrogenase deficiency
Health Risk
RS200297060
Conflicting classifications of pathogenicity
Long chain acyl-CoA dehydrogenase deficiency, Long chain acyl-CoA dehydrogenase deficiency
Health Risk
RS377085604
Conflicting classifications of pathogenicity
Long chain acyl-CoA dehydrogenase deficiency, Long chain acyl-CoA dehydrogenase deficiency
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146511220 | Health Risk | Conflicting classifications of pathogenicity | Long chain acyl-CoA dehydrogenase deficiency, Long chain acyl-CoA dehydrogenase deficiency |
| RS200297060 | Health Risk | Conflicting classifications of pathogenicity | Long chain acyl-CoA dehydrogenase deficiency, Long chain acyl-CoA dehydrogenase deficiency |
| RS377085604 | Health Risk | Conflicting classifications of pathogenicity | Long chain acyl-CoA dehydrogenase deficiency, Long chain acyl-CoA dehydrogenase deficiency |