ACAT1 Antibody
Description
Product Specs
Product Science Overview
The ACAT1 gene is located on chromosome 11q22.3-q23.1 in humans and spans approximately 27 kb, containing twelve exons interrupted by eleven introns . The gene lacks a TATA box but contains multiple GC-rich regions and CAAT boxes, which are essential for transcription regulation . The gene produces a chimeric mRNA through trans-splicing, resulting in two isoforms of the ACAT1 protein: a 50-kDa and a 56-kDa isoform .
The ACAT1 protein is a homotetramer composed of 427 amino acids, with a molecular weight of approximately 45.1 kDa . It has nine transmembrane domains (TMDs), with the active site containing a histidine residue at the 460th position . The protein’s structure allows it to bind substrates and catalyze reactions efficiently.
ACAT1 catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA . This reaction is a critical step in the mitochondrial beta-oxidation pathway, which breaks down fatty acids into acetyl-CoA . The enzyme’s activity is unique due to its ability to use 2-methyl-branched acetoacetyl-CoA as a substrate and its activation by potassium ions .
The enzyme plays a significant role in ketone body metabolism, which is essential during periods of fasting or low carbohydrate intake . By converting acetyl-CoA into acetoacetyl-CoA, ACAT1 helps maintain energy homeostasis in the body.
Mutations in the ACAT1 gene can lead to 3-ketothiolase deficiency, an inborn error of isoleucine catabolism . This condition is characterized by the urinary excretion of abnormal organic acids, including 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone . Patients with this deficiency may experience metabolic crises, particularly during periods of illness or fasting.
Mouse anti-human ACAT1 antibodies are commonly used in research to study the expression and function of ACAT1 in various tissues. These antibodies are generated by immunizing mice with human ACAT1 protein, leading to the production of specific antibodies that can bind to human ACAT1 . These antibodies are valuable tools for investigating the role of ACAT1 in metabolic pathways and diseases.
