ACADS Antibody

The gene encoding this enzyme in humans is known as ACADS (Acyl-CoA Dehydrogenase, C-2 to C-3 short chain). This gene is located on chromosome 12 (12q24.31) and spans approximately 13 kb in length, containing 10 exons . The protein encoded by this gene is a tetrameric mitochondrial flavoprotein, consisting of 412 amino acids with a molecular weight of approximately 44.3 kDa in humans .

The primary function of the ACADS enzyme is to catalyze the first step of fatty acid β-oxidation by forming a C2-C3 trans-double bond in the fatty acid through dehydrogenation of the flavoenzyme . This enzyme is specific to short-chain fatty acids, typically between C2 and C3-acylCoA . The final product of this β-oxidation process is acetyl-CoA, which is a key molecule in energy production within the cell.

Mutations in the ACADS gene can lead to a condition known as Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD). This is a metabolic disorder that affects the body’s ability to break down short-chain fatty acids, leading to an accumulation of these fatty acids in the body . Symptoms of SCADD can vary widely, ranging from mild to severe, and may include muscle weakness, hypoglycemia, and developmental delays.

In research, mouse anti-human antibodies are often used to study human proteins in various experimental settings. These antibodies are generated by immunizing mice with human proteins or peptides, leading to the production of antibodies that specifically recognize and bind to the human protein of interest. In the context of ACADS, mouse anti-human antibodies can be used to detect and quantify the presence of the ACADS enzyme in human tissue samples, facilitating research into its function and role in metabolic disorders.