MTHFD1L: Proteins and Enzymes

MTHFD1L, also known as Monofunctional C1-tetrahydrofolate synthase, mitochondrial, consists of 2 a 978 amino acid isoform1 that is 106 kDa and a 275 amino acid isoform 2 that is 30 kDa; has mitochondrion subcellular location and highest expression found in placenta, thymus and brain; it is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion which is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine, and also may provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2. Current research is being performed on this protein involvement in cleft lip/palate, neural tube defect, homocysteine, coronary heart disease, chronic myeloid leukemia, Down syndrome, colon adenocarcinoma, nephropathy, Alzheimer's disease, dementia, colorectal cancer, leukemia, and atherosclerosis. This protein plays role in One carbon pool by folate and Metabolic pathways where it interacts with CASP4, MAGED1, WRAP73, WDR8, MAP1LC3A, and plus more than 40 other proteins.