1. Gene
  2. Mthfr - methylenetetrahydrofolate reductase Gene

Mthfr - methylenetetrahydrofolate reductase Gene

Mus musculus
Gene ID: 17769 | Gene type: protein coding

About Mthfr

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]

Mthfr Products(2)

mRNA Protein Name
NM_001161798.1 NP_001155270.1 methylenetetrahydrofolate reductase isoform a
NM_010840.3 NP_034970.2 methylenetetrahydrofolate reductase isoform b
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables methylenetetrahydrofolate reductase (NAD(P)H) activity IMP
IMP: Inferred from mutant phenotype
15217352 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within methionine biosynthetic process IMP
IMP: Inferred from mutant phenotype
15217352 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

methylenetetrahydrofolate reductase

5,10-methylenetetrahydrofolate reductase

Orthologs Information

Species Symbol Source ID
Homo sapiens Mthfr NCBI NCBI:4524