MTHFD1 Antibody – Rabbit Polyclonal

This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq]

MTHFD1: an ubiquitous trifunctional enzyme containing two major domains: a N-terminal part, containing methylene-THF dehydrogenase and methenyl-THF cyclohydrolase activities, and a C-terminal part containing a formyl-THF synthetase domain.

Protein type: Cofactor and Vitamin Metabolism - one carbon pool by folate; EC 1.5.1.5; Oxidoreductase; Ligase; Hydrolase; EC 6.3.4.3; Carbohydrate Metabolism - glyoxylate and dicarboxylate; EC 3.5.4.9

Chromosomal Location of Human Ortholog: 14q24

Cellular Component: mitochondrion; membrane; cytosol

Molecular Function: methylenetetrahydrofolate dehydrogenase (NADP+) activity; formate-tetrahydrofolate ligase activity; methenyltetrahydrofolate cyclohydrolase activity; ATP binding; methylenetetrahydrofolate dehydrogenase activity

Biological Process: histidine biosynthetic process; folic acid and derivative biosynthetic process; vitamin metabolic process; methionine biosynthetic process; purine nucleotide biosynthetic process; one-carbon compound metabolic process; folic acid metabolic process; water-soluble vitamin metabolic process

Disease: Neural Tube Defects, Folate-sensitive