MTHFD1L

2EO225902270685ENSG00000120254ENSMUSG00000040675Q6UB35Q4VXM1Q3V3R1NM_001350487NM_001350488NM_001350489NM_001350490NM_001350491NM_001350492NM_001350493NM_001170785NM_001170786NM_172308NP_001337416NP_001337417NP_001337418NP_001337419NP_001337420NP_001337421NP_001337422NP_001164256NP_001164257NP_758512Monofunctional C1-tetrahydrofolate synthase, mitochondrial also known as formyltetrahydrofolate synthetase, is an enzyme that in humans is encoded by the MTHFD1L gene (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like).

[5][6][7] One-carbon substituted forms of tetrahydrofolate (THF) are involved in the de novo synthesis of purines and thymidylate and support cellular methylation reactions through the regeneration of methionine from homocysteine.

[7] In contrast to MTHFD1 that has trifunctional methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetase enzymatic activities, MTHFD1L only has formyltetrahydrofolate synthetase activity.

[9] Different alleles of SNP rs7646 in the 3′ UTR of MTHFD1L are differentially regulated by microRNAs affecting MTHFD1L expression.

[10] This article incorporates text from the United States National Library of Medicine, which is in the public domain.