Monofunctional C1-Tetrahydrofolate Synthase, Mitochondrial (MTHFD1L) Reagents

Monofunctional C1-tetrahydrofolate synthase, mitochondrial

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.

Mitochondrion.

Tetrahydrofolate dehydrogenase/cyclohydrolase family; Formate--tetrahydrofolate ligase family

Detected in most tissues, highest expression found in placenta, thymus and brain. Low expression is found in liver and skeletal muscle. Up-regulated in colon adenocarcinoma.

10-formyl-THF synthetase; C1TM_HUMAN; Formyltetrahydrofolate synthetase; formyltetrahydrofolate synthetase domain containing 1; FTHFSDC1; methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like; mitochondrial; Monofunctional C1-tetrahydrofolate synthase; MTC1THFS; MTHFD1L; RP1-292B18.2

The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.