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Gene: Mthfr (methylenetetrahydrofolate reductase) Mus musculus
Symbol: Mthfr
Name: methylenetetrahydrofolate reductase
Description: Exhibits methylenetetrahydrofolate reductase (NAD(P)H) activity. Involved in methionine biosynthetic process. Predicted to localize to the cytosol and synapse. Used to study neural tube defect. Human ortholog(s) of this gene implicated in several diseases, including carcinoma (multiple); cardiovascular system disease (multiple); eye disease (multiple); hematologic cancer (multiple); and kidney failure (multiple). Is expressed in several structures, including central nervous system; cranium; heart; sensory organ; and testis. Orthologous to human MTHFR (methylenetetrahydrofolate reductase); PARTICIPATES IN altered folate cycle metabolic pathway; altered folate mediated one-carbon metabolic pathway; folate cycle metabolic pathway; INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 2,2',5,5'-tetrachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 5,10-methylenetetrahydrofolate reductase; AI323986
Homo sapiens (human) : MTHFR (methylenetetrahydrofolate reductase)  HGNC  Alliance
Rattus norvegicus (Norway rat) : Mthfr (methylenetetrahydrofolate reductase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mthfr (methylenetetrahydrofolate reductase)
Pan paniscus (bonobo/pygmy chimpanzee) : MTHFR (methylenetetrahydrofolate reductase)
Canis lupus familiaris (dog) : MTHFR (methylenetetrahydrofolate reductase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mthfr (methylenetetrahydrofolate reductase)
Sus scrofa (pig) : MTHFR (methylenetetrahydrofolate reductase)
more info ...
Related Pseudogenes: Mthfr-ps1  
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm384148,039,077 - 148,059,562 (+)NCBIGRCm38GRCm38mm10GRCm38
MGSCv374147,413,186 - 147,433,671 (+)NCBIGRCm37mm9NCBIm37
MGSCv364146,885,022 - 146,903,349 (+)NCBImm8
Celera4150,305,674 - 150,326,065 (+)NCBICelera
Cytogenetic Map4 E2NCBI
cM Map478.67NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status



Nucleotide Sequences
Protein Sequences

Additional Information

External Database Links
Nomenclature History
More on Mthfr
Alliance Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1551392
Created: 2005-09-30
Species: Mus musculus
Last Modified: 2019-10-29
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.