Gene

mthfr

ID
ZDB-GENE-041111-215
Name
methylenetetrahydrofolate reductase (NAD(P)H)
Symbol
mthfr Nomenclature History
Previous Names
  • fa92h12
  • im:7144504 (1)
  • si:dkeyp-100a1.4 (1)
  • wu:fa92h12 (1)
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Predicted to have FAD binding activity and methylenetetrahydrofolate reductase (NAD(P)H) activity. Predicted to be involved in methionine biosynthetic process and tetrahydrofolate interconversion. Predicted to localize to cytosol. Is expressed in anterior neural tube; optic cup; and somite. 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). Orthologous to human MTHFR (methylenetetrahydrofolate reductase).
Genome Resources
Note
None
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mthfr Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
homocystinuria Alliance Homocystinuria due to MTHFR deficiency 236250
neural tube defect Alliance {Neural tube defects, susceptibility to} 601634
prothrombin thrombophilia Alliance {Thromboembolism, susceptibility to} 188050
schizophrenia Alliance {Schizophrenia, susceptibility to} 181500
thrombophilia due to thrombin defect Alliance {Thromboembolism, susceptibility to} 188050
{Vascular disease, susceptibility to}
Associated With mthfr Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR003171 Methylenetetrahydrofolate reductase-like
Family IPR004621 Eukaryotic-type methylenetetrahydrofolate reductase
Homologous_superfamily IPR029041 FAD-linked oxidoreductase-like
Domain Details Per Protein
Protein Length Eukaryotic-type methylenetetrahydrofolate reductase FAD-linked oxidoreductase-like Methylenetetrahydrofolate reductase-like
UniProtKB:B0V153 656
UniProtKB:H9MZH5 656
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations