| 背景 | C-1-tetrahydrofolate synthase, cytoplasmic (MTHFD1) is a ~101 kDa protein. Trifunctional enzyme that catalyzes the interconversion of three forms of one-carbon-substituted tetrahydrofolate: (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate, 5,10-methenyltetrahydrofolate and (6S)-10-formyltetrahydrofolate. These derivatives of tetrahydrofolate are differentially required in nucleotide and amino acid biosynthesis, (6S)-10-formyltetrahydrofolate being required for purine biosynthesis while (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate is used for serine and methionine biosynthesis for instance. 2. Christensen, KE. et al. (2009) Human mutation 30, 212-20. PMID: 187671383. Hum, DW. et al. (1991) Protein engineering 4, 493-500. PMID: 18818764. Burda, P. et al. (2015) Journal of inherited metabolic disease 38, 863-72. PMID: 25633902 |
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