MAT1A Human

The MAT1A gene is located on chromosome 10q22.3 and encodes the alpha subunit of the enzyme. The protein can exist in different forms, such as a homotetramer (MAT I) or a homodimer (MAT III), depending on the cellular context . The recombinant form of this protein is often produced in various expression systems, including HEK293T cells and Nicotiana tabacum (tobacco) plants .

MAT1A catalyzes a two-step reaction:

1. The transfer of the adenosyl moiety of ATP to methionine, forming S-adenosylmethionine (SAMe) and tripolyphosphate.
2. The subsequent cleavage of tripolyphosphate to pyrophosphate (PPi) and inorganic phosphate (Pi) .

SAMe is a vital molecule that serves as a methyl group donor in numerous methylation reactions, which are essential for the regulation of gene expression, protein function, and lipid metabolism .

Mutations in the MAT1A gene can lead to methionine adenosyltransferase deficiency, a rare metabolic disorder characterized by elevated levels of methionine in the blood (hypermethioninemia). This condition can result in various clinical manifestations, including neurological symptoms and liver dysfunction .

Recombinant MAT1A protein is widely used in research to study its role in methionine metabolism and its implications in various diseases. It is also utilized in drug development and biochemical assays to understand the enzyme’s function and to screen for potential inhibitors .

The recombinant MAT1A protein is typically produced using advanced expression systems. For example, the ALiCE® system, based on a lysate obtained from Nicotiana tabacum, is used to produce even the most challenging proteins. The protein is then purified through multi-step processes to ensure correct folding and modification .