GENETIC ENCYCLOPEDIA
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gene: ACADL

id33
symbolACADL
organismHomo sapiens
full nameacyl-CoA dehydrogenase long chain
summaryThe 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]
variant-disease

NM_001608.4(ACADL):c.1144G>A (p.Asp382Asn) AND Very long chain acyl-CoA dehydrogenase deficiency

NM_001608.4(ACADL):c.86A>G (p.His29Arg) AND Very long chain acyl-CoA dehydrogenase deficiency

NM_001608.4(ACADL):c.*711G>A AND Very long chain acyl-CoA dehydrogenase deficiency

NM_001608.4(ACADL):c.621G>T (p.Gly207=) AND Very long chain acyl-CoA dehydrogenase deficiency

NM_001608.4(ACADL):c.*928A>G AND Very long chain acyl-CoA dehydrogenase deficiency

... 42 more


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