Full name: methylenetetrahydrofolate reductase

Gene type: protein coding

RefSeq status: VALIDATED

Summary: Enables methylenetetrahydrofolate reductase (NAD(P)H) activity. Acts upstream of or within methionine biosynthetic process. Predicted to be located in synapse. Predicted to be active in cytosol. Is expressed in several structures, including central nervous system; cranium; heart; sensory organ; and testis. Used to study neural tube defect. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); carcinoma (multiple); cardiovascular system disease (multiple); hematologic cancer (multiple); and kidney failure (multiple). Orthologous to human MTHFR (methylenetetrahydrofolate reductase). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Ubiquitous expression in ovary adult (RPKM 9.7), testis adult (RPKM 8.0) and 28 other tissues

Gene size: 20486bp

Exon count: 13