Structural highlights
Disease
[MTHR_HUMAN] Thoracolumbosacral spina bifida cystica;Cervicothoracic spina bifida cystica;Lumbosacral spina bifida cystica;Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Cervicothoracic spina bifida aperta;Upper thoracic spina bifida aperta;Lumbosacral spina bifida aperta;Thoracolumbosacral spina bifida aperta;Methotrexate toxicity or dose selection;Cervical spina bifida cystica;Non rare thrombophilia;Upper thoracic spina bifida cystica;Total spina bifida aperta;Total spina bifida cystica;Isolated anencephaly/exencephaly;Cervical spina bifida aperta. The disease is caused by mutations affecting the gene represented in this entry. Disease susceptibility is associated with variations affecting the gene represented in this entry. Disease susceptibility is associated with variations affecting the gene represented in this entry. Disease susceptibility is associated with variations affecting the gene represented in this entry.
Function
[MTHR_HUMAN] Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.[1]
References
- ↑ Burda P, Schafer A, Suormala T, Rummel T, Burer C, Heuberger D, Frapolli M, Giunta C, Sokolova J, Vlaskova H, Kozich V, Koch HG, Fowler B, Froese DS, Baumgartner MR. Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779. Epub 2015 Apr 27. PMID:25736335 doi:http://dx.doi.org/10.1002/humu.22779
