Anti-MTHFD1 antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

The MTHFD1 protein also known as C1-THF synthase is a trifunctional enzyme involved in the folate metabolism. It has a mass of approximately 102 kDa and functions within the cytoplasm. MTHFD1 catalyzes three sequential activities: methylene-THF dehydrogenase methenyl-THF cyclohydrolase and formyl-THF synthetase. These enzymatic activities are fundamental for cellular one-carbon metabolism. This protein is widely expressed in various tissues including liver and fetal tissues reflecting its importance in cellular metabolism.

Biological function summary

MTHFD1 plays a central role in folate-mediated one-carbon transfer reactions. It connects the cytoplasmic folate cycle to nucleotide biosynthesis and amino acid metabolism. As a multifunctional enzyme it is known to integrate with the cytosolic one-carbon metabolic complex allowing it to coordinate closely with other enzymes in the cycle. This function supports the synthesis of purines and thymidylate which are essential building blocks for DNA and RNA.

Pathways

MTHFD1 integrates into the folate and methionine cycles important parts of cellular metabolism. It collaborates with enzymes such as SHMT1 in the biosynthesis of nucleotides. The folate cycle in which MTHFD1 participates provides one-carbon units necessary for methylation reactions and nucleotide synthesis playing a part in maintaining genomic stability. This partnership with the methionine cycle further indicates its influence on cellular methylation patterns impacting gene expression and protein function.

Associated diseases and disorders

MTHFD1 has associations with certain conditions notably neural tube defects and cardiovascular disease. Mutations or polymorphisms in the MTHFD1 gene can disrupt the folate and methionine cycles leading to disturbed one-carbon metabolism. In neural tube defects low activity of MTHFD1 correlates with insufficient nucleotide biosynthesis and improper DNA methylation. In cardiovascular disease MTHFD1 interacts with homocysteine metabolism through its role in the methylation cycle influencing levels of this risk-associated amino acid.