ALDH6A1 Human
Description
Product Specs
Product Science Overview
The ALDH6A1 gene is located on chromosome 14 at the position 14q24.3 . It encodes a mitochondrial enzyme known as methylmalonate semialdehyde dehydrogenase (MMSDH). This enzyme catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl-CoA and propionyl-CoA, respectively . The gene consists of 12 exons and produces a protein with a molecular weight of approximately 55 kDa .
ALDH6A1 is primarily expressed in the liver and kidney, although it is also found in other tissues . The enzyme’s primary function is to detoxify aldehydes produced during the metabolism of amino acids and other compounds. It does this by converting aldehydes into their corresponding carboxylic acids, which are less reactive and can be further metabolized or excreted from the body .
The enzyme uses nicotinamide adenine dinucleotide (NAD) as a cofactor to facilitate the oxidation of aldehydes. The reaction mechanism involves the formation of a thiohemiacetal intermediate, which is then oxidized to form the corresponding carboxylic acid .
Mutations in the ALDH6A1 gene can lead to a deficiency in methylmalonate semialdehyde dehydrogenase. This condition is characterized by elevated levels of beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine . These elevated levels can lead to various metabolic disorders, including developmental delays and neurological issues.
Recombinant ALDH6A1 is produced using an expression system, typically in E. coli, to generate large quantities of the enzyme for research purposes . The recombinant protein is often tagged with a His-tag to facilitate purification and is used in various biochemical assays to study the enzyme’s function and structure .
Recombinant ALDH6A1 is used in various research applications, including:
- Structural Studies: To determine the three-dimensional structure of the enzyme and understand its catalytic mechanism.
- Drug Development: To screen for inhibitors or activators of the enzyme, which could be potential therapeutic agents for metabolic disorders.
- Biochemical Assays: To study the enzyme’s kinetics and substrate specificity.
