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MTHFD1  -  methylenetetrahydrofolate dehydrogenase...

Homo sapiens

Synonyms: C-1-tetrahydrofolate synthase, cytoplasmic, C1-THF synthase, MTHFC, MTHFD
 
 
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Disease relevance of MTHFD1

 

Psychiatry related information on MTHFD1

 

High impact information on MTHFD1

  • Disruption of the mthfd1 gene reveals a monofunctional 10-formyltetrahydrofolate synthetase in mammalian mitochondria [4].
  • Midline restriction is not a general property of this branch of folate metabolism, as MTHFD1 displays broad and apparently ubiquitous expression throughout the neural tube [5].
  • Genotyping was carried out for polymorphisms in the MTHFR, TS, MS, MTHFD1 and DNMT3b genes [6].
  • A pseudogene on the X chromosome for the human trifunctional enzyme MTHFD (methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase) [7].
  • A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss [8].
 

Chemical compound and disease context of MTHFD1

 

Biological context of MTHFD1

 

Other interactions of MTHFD1

  • We observed that there were no statistical differences in allele and genotype frequencies of MTHFR c.677C>T, MTHFD1 c.1958G>A and RFC1 c.80G>A between mothers who had children with CL/P and control mothers [9].
  • Gel filtration and crosslinking studies indicated that human mitochondrial C1-THF synthase exists as a homodimer in solution [10].

References

  1. Gene expression profiling of hereditary exencephaly in chickens. Jaszczak, K., Sazanov, A.A., Sacharczuk, M., Korczak, M., Sazanova, A.L., Parada, R., Malewski, T. Anim. Genet. (2006) [Pubmed]
  2. MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae. Parle-McDermott, A., Mills, J.L., Kirke, P.N., Cox, C., Signore, C.C., Kirke, S., Molloy, A.M., O'Leary, V.B., Pangilinan, F.J., O'Herlihy, C., Brody, L.C., Scott, J.M. Am. J. Med. Genet. A (2005) [Pubmed]
  3. Chromosomal fragility associated with familial Alzheimer's disease. Ettinger, S., Weksler, M.E., Zhou, X., Blass, J., Szabo, P. Ann. Neurol. (1994) [Pubmed]
  4. Disruption of the mthfd1 gene reveals a monofunctional 10-formyltetrahydrofolate synthetase in mammalian mitochondria. Christensen, K.E., Patel, H., Kuzmanov, U., Mejia, N.R., MacKenzie, R.E. J. Biol. Chem. (2005) [Pubmed]
  5. The folate metabolic enzyme ALDH1L1 is restricted to the midline of the early CNS, suggesting a role in human neural tube defects. Anthony, T.E., Heintz, N. J. Comp. Neurol. (2007) [Pubmed]
  6. DNA hypermethylation in the normal colonic mucosa of patients with colorectal cancer. Kawakami, K., Ruszkiewicz, A., Bennett, G., Moore, J., Grieu, F., Watanabe, G., Iacopetta, B. Br. J. Cancer (2006) [Pubmed]
  7. A pseudogene on the X chromosome for the human trifunctional enzyme MTHFD (methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase). Italiano, C., John, S.W., Hum, D.W., MacKenzie, R.E., Rozen, R. Genomics (1991) [Pubmed]
  8. A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss. Parle-McDermott, A., Pangilinan, F., Mills, J.L., Signore, C.C., Molloy, A.M., Cotter, A., Conley, M., Cox, C., Kirke, P.N., Scott, J.M., Brody, L.C. Mol. Hum. Reprod. (2005) [Pubmed]
  9. Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population. Mostowska, A., Hozyasz, K.K., Jagodzinski, P.P. Clin. Genet. (2006) [Pubmed]
  10. Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase. Walkup, A.S., Appling, D.R. Arch. Biochem. Biophys. (2005) [Pubmed]
 
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