Primary Identifier | MGI:106639 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 17769 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables methylenetetrahydrofolate reductase (NAD(P)H) activity. Acts upstream of or within methionine biosynthetic process. 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 carcinoma (multiple); cardiovascular system disease (multiple); hematologic cancer (multiple); kidney failure (multiple); and liver disease (multiple). Orthologous to human MTHFR (methylenetetrahydrofolate reductase). PHENOTYPE: Mice homozygous for disruptions in this gene have elevated plasma levels of homocysteine. They also display delayed growth and development and a reduced survival rate. [provided by MGI curators] |