GCDH Human
Description
Product Specs
Product Science Overview
GCDH is a homotetramer, meaning it consists of four identical subunits, each with a molecular weight of approximately 45 kDa . The enzyme is located in the mitochondrial matrix, where it catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and carbon dioxide . This reaction is a key step in the degradation pathway of the aforementioned amino acids.
The enzyme uses electron transfer flavoprotein (ETF) as its electron acceptor, which is essential for the proper functioning of the enzyme . The activity of GCDH is vital for maintaining the balance of metabolic processes involving these amino acids.
Mutations in the GCDH gene can lead to a metabolic disorder known as glutaric aciduria type 1 (GA1), also referred to as glutaric acidemia type I . This autosomal recessive disorder is characterized by the accumulation of glutaric acid and other metabolites in the body, leading to severe neurological symptoms . Early diagnosis and management are crucial to prevent irreversible damage.
Recombinant GCDH refers to the enzyme produced through recombinant DNA technology, which involves inserting the GCDH gene into a suitable expression system, such as bacteria or yeast, to produce the enzyme in large quantities. This recombinant form is used for research purposes, including studying the enzyme’s structure, function, and role in metabolic disorders.
Recombinant GCDH is valuable in various research applications, including:
- Studying enzyme kinetics: Understanding the enzyme’s catalytic mechanisms and how mutations affect its activity.
- Drug development: Screening potential therapeutic compounds that can modulate the enzyme’s activity.
- Diagnostic tools: Developing assays to detect GCDH activity or mutations in the GCDH gene.
