ACADSB Human
Description
ACADSB is fused to a 25 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Short/branched-chain specific acyl-CoA dehydrogenase (ACADSB) is a member of the acyl-CoA dehydrogenase enzyme family. These enzymes play a crucial role in fatty acid and branched-chain amino acid metabolism by catalyzing the dehydrogenation of acyl-CoA derivatives. ACADSB is specifically involved in the breakdown of L-isoleucine and exhibits a high affinity for substrates like (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2-methylhexanoyl-CoA. Additionally, it may utilize valproyl-CoA as a substrate. Genetic defects in the ACADSB gene can lead to short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), an autosomal recessive disorder. This disorder is characterized by elevated levels of 2-methylbutyrylglycine and 2-methylbutyrylcarnitine in the bloodstream and urine.
Product Science Overview
Acyl-CoA dehydrogenases (ACADs) are a class of mitochondrial flavoenzymes that play a crucial role in the metabolism of fatty acids and amino acids. These enzymes catalyze the initial step in each cycle of fatty acid β-oxidation, introducing a trans double-bond between the α and β carbon atoms of the acyl-CoA thioester substrate . Among the various types of ACADs, the short-chain acyl-CoA dehydrogenase (SCAD) specifically targets short-chain fatty acids.
Short-chain acyl-CoA dehydrogenase (SCAD) is responsible for the dehydrogenation of saturated short-chain acyl-CoA molecules, converting them into their corresponding enoyl-CoA derivatives. This reaction is the first and rate-limiting step in the β-oxidation pathway, which ultimately leads to the production of acetyl-CoA. Acetyl-CoA then enters the tricarboxylic acid (TCA) cycle, contributing to the production of ATP through oxidative phosphorylation .
The enzyme utilizes flavin adenine dinucleotide (FAD) as a cofactor to facilitate the transfer of electrons from the acyl-CoA substrate to the electron transfer flavoprotein (ETF). The ETF then transfers these electrons to the mitochondrial respiratory chain, where they contribute to the generation of ATP .
The gene encoding SCAD is known as ACADS. Mutations in this gene can lead to short-chain acyl-CoA dehydrogenase deficiency (SCADD), an autosomal recessive disorder characterized by impaired fatty acid oxidation. Individuals with SCADD may exhibit a range of clinical symptoms, from severe metabolic or neuromuscular disabilities to being completely asymptomatic .
Human recombinant SCAD is produced using recombinant DNA technology. This involves inserting the human ACADS gene into a suitable expression vector, which is then introduced into a host cell, such as Escherichia coli or yeast. The host cells are cultured under conditions that promote the expression of the SCAD protein. The recombinant protein is then purified using various chromatographic techniques to obtain a highly pure and active enzyme.
Recombinant SCAD is used in various research applications to study the biochemical and physiological roles of the enzyme. It is also employed in the development of diagnostic assays for detecting SCADD and other related metabolic disorders. Additionally, recombinant SCAD can be used in drug discovery and development to screen for potential therapeutic compounds that target fatty acid oxidation pathways.
