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. 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 anterior neural tube; optic cup; and somite. Orthologous to human MTHFR (methylenetetrahydrofolate reductase).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7144504 (1 image)

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
Domain	IPR053806	MTHFR, SAM-binding regulatory domain
Family	IPR003171	Methylenetetrahydrofolate reductase-like
Family	IPR004621	Eukaryotic-type methylenetetrahydrofolate reductase
Homologous_superfamily	IPR029041	FAD-linked oxidoreductase-like