MTHFD1L

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. MTHFD1L is an enzyme involved in THF synthesis in mitochondria.

In contrast to MTHFD1 that has trifunctional methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetase enzymatic activities, MTHFD1L only has formyltetrahydrofolate synthetase activity.{{cite journal |vauthors=Christensen KE, Patel H, Kuzmanov U, Mejia NR, MacKenzie RE | title = Disruption of the mthfd1 gene reveals a monofunctional 10-formyltetrahydrofolate synthetase in mammalian mitochondria | journal = J. Biol. Chem. | volume = 280 | issue = 9 | pages = 7597–602 |date=March 2005 | pmid = 15611115 | doi = 10.1074/jbc.M409380200 | doi-access = free }}

Certain variants of the MTHFD1L are associated neural tube defects.{{cite journal |vauthors=Parle-McDermott A, Pangilinan F, O'Brien KK, Mills JL, Magee AM, Troendle J, Sutton M, Scott JM, Kirke PN, Molloy AM, Brody LC | title = A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency | journal = Hum. Mutat. | volume = 30 | issue = 12 | pages = 1650–6 |date=December 2009 | pmid = 19777576 | doi = 10.1002/humu.21109 | pmc=2787683}} Different alleles of SNP rs7646 in the 3′ UTR of MTHFD1L are differentially regulated by microRNAs affecting MTHFD1L expression.{{Cite journal|last1=Minguzzi|first1=Stefano|last2=Selcuklu|first2=S. Duygu|last3=Spillane|first3=Charles|last4=Parle-McDermott|first4=Anne|date=2013-12-18|title=An NTD-Associated Polymorphism in the 3′ UTR of MTHFD1L can Affect Disease Risk by Altering miRNA Binding|journal=Human Mutation|volume=35|issue=1|pages=96–104|doi=10.1002/humu.22459|pmid=24123340|s2cid=6583361|issn=1059-7794}}

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Category:EC 6.3.4

Category:Genes mutated in mice