ACADVL: Human acyl-Coenzyme A dehydrogenase, very long chain
PDB Code: 2UXW
The fatty acid β-oxidation cycle consists of four reactions (acyl-CoA dehydrogenases, hydratase, hydroxyacyl CoA dehydrogenase and ketothiolase) that shorten the fatty acid chain by a C2 unit during every cycle. This pathway is predominantly carried out in mitochondria. Several of the enzymes, such as the dehydrogenases involved in the β-oxidation cycle show specificity towards the substrate acyl-chain length.
The FAD containing enzyme "very long-chain acyl CoA dehydrogenase" (ACADVL) is located at the inner mitochondrial membrane and catalyzes the initial oxidation of long-chain acyl CoAs (preferred substrates: palmitoyl and stearoyl CoA) to the corresponding trans 2,3 enoyl CoAs.
The enzyme is highly expressed in heart and skeletal muscle, but is also found in liver, kidney, lung, pancreas and placenta. The human gene is localized on the chromosomal region 17p13.1-p11.2. Mutations in ACADVL result in VLCAD deficiency, an autosomal recessive disease which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes including a mild childhood form (late onset, usually with hypoketotic hypoglycemia as the main presenting feature, low mortality, and rare cardiomyopathy), a severe childhood form (early onset, high mortality, and high incidence of cardiomyopathy) and an adult form (with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria, usually triggered by exercise or fasting)
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