8qa6
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Structural highlights
DiseaseMTHR_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. FunctionMTHR_HUMAN Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.[1] References
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This page was last modified 12:04, 8 November 2023.