| Primary Identifier | MGI:1342005 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 108156 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables formate-tetrahydrofolate ligase activity; methylenetetrahydrofolate dehydrogenase (NAD+) activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Involved in several processes, including neural tube closure; sulfur amino acid metabolic process; and tetrahydrofolate metabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; abdominal aortic aneurysm; cleft lip; developmental cardiac valvular defect; and neural tube defect (multiple). Orthologous to human MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1). PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice heterozygous for a gene trap allele exhibit altered amino acid levels and nucleotide metabolism related to dietary folate and choline concentrations. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
