Humans have an enzyme called acyl-CoA dehydrogenase, C-2 to C-3 short chain, which is encoded by the ACADS gene. A tetrameric mitochondrial flavoprotein that belongs to the acyl-CoA dehydrogenase family is encoded by this gene. The first stage of the mitochondrial fatty acid beta-oxidation pathway is catalyzed by this enzyme.
Short-chain acyl-coenzyme A dehydrogenase deficiency is linked to the ACADS gene. The ACADS gene has 10 exons and is roughly 13 kb long. This gene has a 1239 bp coding sequence. The 412 amino acids in the encoded protein result in a size of either 44.3 kDa (Human) or 44.9 KDa (Mouse).
Through the dehydrogenation of the flavoenzyme, the SCAD enzyme catalyzes the formation of a C2-C3 trans-double bond in the fatty acid, which is the first step in fatty acid beta-oxidation. Between C2 and C3-acylCoA, short-chain fatty acids are the only ones that SCAD targets. Acetyl-CoA is the end product of beta-oxidation. Reactive oxygen species (ROS) are produced in greater quantities when SCAD is misfolded due to abnormalities. The increased ROS causes the mitochondria to split, and the mitochondrial reticulum develops a grainy texture.
Short-chain acyl-coenzyme A dehydrogenase protein (SCADD) deficiency, also known as butyryl-CoA dehydrogenase deficiency, is linked to mutations in the ACADS gene.
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