Human Acyl-CoA Dehydrogenase, Short/Branched Chain (ACADSB) Protein

Background

The ACADSB gene encodes the enzyme short/branched chain specific acyl-CoA dehydrogenase (SBCAD), which belongs to the acyl-CoA dehydrogenase family. This enzyme is involved in catalyzing the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branched-chain amino acids. ACADSB deficiency can lead to short/branched-chain acyl-CoA dehydrogenase deficiency. The enzyme exhibits substrate specificity towards short branched-chain acyl-CoA derivatives, particularly (S)-2-methylbutyryl-CoA, although it also reacts with other 2-methyl branched chain substrates and short straight chain acyl-CoAs. The encoded protein is initially produced as a mitochondrial precursor, which undergoes cleavage upon import into the mitochondria, resulting in a mature peptide of approximately 43.7 kDa.