Methylene-tetrahydrofolate reductase ( MTHFR ) A Target Enabling Package ( TEP )

Gene ID / UniProt ID / EC 4524 / P42898 / EC 1.5.1.20 Target Nominator D. Sean Froese, Matthias Baumgartner SGC Authors Jola Kopec, Gustavo A. Bezerra, Rod Chalk, Elzbieta Rembeza, William R. Foster, Oktawia Borkowska, Peter J. Brown Collaborating Authors D. Sean Froese, Terttu Suormala, Seraina Lutz, Matthias Baumgartner Kevin G. Hicks, Jared Rutter, Minkui Luo Target PI Wyatt W. Yue (SGC Oxford) Therapeutic Area(s) Metabolic disorders, cancer Disease Relevance Autosomal recessive mutations cause MTHFR deficiency (OMIM 236250); common genetic variants are associated with ischemic stroke (OMIM 601367), folate-sensitive neural tube defects (OMIM 601634) and schizophrenia (OMIM 181500) Date Approved by TEP Evaluation Group 9/12/2019