The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylene... See more...

Aliases for MTHFR Gene

Aliases for MTHFR Gene

  • Methylenetetrahydrofolate Reductase 2 3 4 5
  • 5,10-Methylenetetrahydrofolate Reductase (NADPH) 2 3
  • Methylenetetrahydrofolate Reductase (NAD(P)H) 2 3
  • EC 1.5.1.20 4 54

External Ids for MTHFR Gene

Previous GeneCards Identifiers for MTHFR Gene

  • GC01U990112
  • GC01M011694
  • GC01M011459
  • GC01M011556
  • GC01M011780
  • GC01M011845
  • GC01M011000

Summaries for MTHFR Gene

Entrez Gene Summary for MTHFR Gene

  • The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]

CIViC Summary for MTHFR Gene

GeneCards Summary for MTHFR Gene

MTHFR (Methylenetetrahydrofolate Reductase) is a Protein Coding gene. Diseases associated with MTHFR include Homocystinuria Due To Deficiency Of N -Methylenetetrahydrofolate Reductase Activity and Neural Tube Defects, Folate-Sensitive. Among its related pathways are Selenium Micronutrient Network and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include NADP binding. An important paralog of this gene is MTR.

UniProtKB/Swiss-Prot Summary for MTHFR Gene

  • Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.

Gene Wiki entry for MTHFR Gene

PharmGKB "VIP" Summary for MTHFR Gene

Additional gene information for MTHFR Gene

No data available for Tocris Summary , Rfam classification and piRNA Summary for MTHFR Gene

Genomics for MTHFR Gene

GeneHancer (GH) Regulatory Elements for MTHFR Gene

Promoters and enhancers for MTHFR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTHFR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MTHFR gene promoter:
  • AML1a
  • MyoD
  • p53

Genomic Locations for MTHFR Gene

Genomic Locations for MTHFR Gene
chr1:11,785,723-11,806,920
(GRCh38/hg38)
Size:
21,198 bases
Orientation:
Minus strand
chr1:11,845,780-11,866,977
(GRCh37/hg19)
Size:
21,198 bases
Orientation:
Minus strand

Genomic View for MTHFR Gene

Genes around MTHFR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTHFR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTHFR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTHFR Gene

Proteins for MTHFR Gene

  • Protein details for MTHFR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42898-MTHR_HUMAN
    Recommended name:
    Methylenetetrahydrofolate reductase
    Protein Accession:
    P42898
    Secondary Accessions:
    • B2R7A6
    • Q5SNW6
    • Q5SNW9
    • Q7Z6M6
    • Q8IU73
    • Q9UQR2

    Protein attributes for MTHFR Gene

    Size:
    656 amino acids
    Molecular mass:
    74597 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MTHFR Gene

    Alternative splice isoforms for MTHFR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTHFR Gene

Selected DME Specific Peptides for MTHFR Gene

P42898:
  • EDVRPIFWA
  • GAVNLISRFDRM
  • FPNGRWGNSSSPAFG
  • NAVTWGIFPGREI
  • GILTINSQPNIN
  • IASTAVNYCGLETILHMTCC
  • EDPRRPLPWALSAHPKRR
  • DEFPNGR
  • IKDVIEPIKDNDAAIRNYGIE

Post-translational modifications for MTHFR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for MTHFR Gene

Gene Families for MTHFR Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MTHFR Gene

Suggested Antigen Peptide Sequences for MTHFR Gene

GenScript: Design optimal peptide antigens:
  • Methylenetetrahydrofolate reductase (A0MPA5_HUMAN)
  • Methylenetetrahydrofolate reductase (MTHR_HUMAN)
  • MTHF reductase (Q4FE54_HUMAN)
  • Methylenetetrahydrofolate reductase (Q5SNW5_HUMAN)
  • Methylenetetrahydrofolate reductase (Q5SNW6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P42898

UniProtKB/Swiss-Prot:

MTHR_HUMAN :
  • Belongs to the methylenetetrahydrofolate reductase family.
Family:
  • Belongs to the methylenetetrahydrofolate reductase family.
genes like me logo Genes that share domains with MTHFR: view

Function for MTHFR Gene

Molecular function for MTHFR Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6S)-5-methyl-5,6,7,8-tetrahydrofolate + NADP(+) = (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + H(+) + NADPH; Xref=Rhea:RHEA:19817, ChEBI:CHEBI:15378, ChEBI:CHEBI:15636, ChEBI:CHEBI:18608, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.5.1.20; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6S)-5-methyl-5,6,7,8-tetrahydrofolate + NAD(+) = (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + H(+) + NADH; Xref=Rhea:RHEA:19821, ChEBI:CHEBI:15378, ChEBI:CHEBI:15636, ChEBI:CHEBI:18608, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.5.1.20; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically regulated by S-adenosylmethionine.
GENATLAS Biochemistry:
5-10 methylenetetrahydrofolate (THF) reductase,NADPH dependent,70kDa,reducing 5-10 methylene THF to,5 methyl-THF for methionine biosynthesis,with a common variant putatively involved in occlusive vascular disease,neural tube defects,colon cancer and adult akute leukemia. And a mutation responsible of increased mortality risk in men in middle and old age

Enzyme Numbers (IUBMB) for MTHFR Gene

Phenotypes From GWAS Catalog for MTHFR Gene

Gene Ontology (GO) - Molecular Function for MTHFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004489 methylenetetrahydrofolate reductase (NAD(P)H) activity IMP,TAS 12673793
GO:0016491 oxidoreductase activity IEA --
GO:0044877 protein-containing complex binding IPI 24769206
GO:0050660 flavin adenine dinucleotide binding IDA 12673793
genes like me logo Genes that share ontologies with MTHFR: view
genes like me logo Genes that share phenotypes with MTHFR: view

Human Phenotype Ontology for MTHFR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MTHFR Gene

MGI Knock Outs for MTHFR:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for MTHFR

No data available for Transcription Factor Targets and HOMER Transcription for MTHFR Gene

Localization for MTHFR Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTHFR gene
Compartment Confidence
cytosol 4
plasma membrane 2
extracellular 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTHFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with MTHFR: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MTHFR Gene

Pathways & Interactions for MTHFR Gene

genes like me logo Genes that share pathways with MTHFR: view

UniProtKB/Swiss-Prot P42898-MTHR_HUMAN

  • Pathway: One-carbon metabolism; tetrahydrofolate interconversion.

SIGNOR curated interactions for MTHFR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MTHFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0001843 neural tube closure NAS 9349452
GO:0006520 cellular amino acid metabolic process TAS 7647779
GO:0006555 methionine metabolic process IGI 10551815
GO:0006730 one-carbon metabolic process IBA 21873635
genes like me logo Genes that share ontologies with MTHFR: view

Drugs & Compounds for MTHFR Gene

(84) Drugs for MTHFR Gene - From: DrugBank, PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyanocobalamin Approved Nutra Target, cofactor 402
Folic acid Approved, Vet_approved Nutra Enzyme, substrate 4687
Benazepril Approved, Investigational Pharma Enzyme, substrate 48
Methotrexate Approved Pharma Enzyme, substrate Folate antagonist,inhibits DFHR 1757
Riboflavin Approved, Investigational, Vet_approved Nutra Enzyme, cofactor 214

(38) Additional Compounds for MTHFR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,10-Methylene-THF
  • (6R)-5,10-Methylenetetrahydrofolate
  • (6R)-5,10-Methylenetetrahydrofolic acid
  • 5,10-Methenyltetrahydropteroylglutamate
  • 5,10-Methylene-6-hydrofolate
  • 5,10-Methylene-6-hydrofolic acid
31690-11-6
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with MTHFR: view

Transcripts for MTHFR Gene

mRNA/cDNA for MTHFR Gene

CRISPR Products

Clone Products

  • Addgene plasmids for MTHFR

Alternative Splicing Database (ASD) splice patterns (SP) for MTHFR Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^
SP1: - - -
SP2: -
SP3: - - - - - - - -
SP4: - - - - - - -
SP5: - - - - -
SP6: - - - - - -
SP7: - -
SP8: - -
SP9:
SP10: - - - -
SP11: - - -

ExUns: 12 ^ 13 ^ 14 ^ 15a · 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for MTHFR Gene

GeneLoc Exon Structure for
MTHFR
ECgene alternative splicing isoforms for
MTHFR

Expression for MTHFR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTHFR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTHFR Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.7), Lymph node (15.8), and Stomach (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTHFR Gene



Protein tissue co-expression partners for MTHFR Gene

NURSA nuclear receptor signaling pathways regulating expression of MTHFR Gene:

MTHFR

SOURCE GeneReport for Unigene cluster for MTHFR Gene:

Hs.214142

Evidence on tissue expression from TISSUES for MTHFR Gene

  • Lung(4.7)
  • Nervous system(4.7)
  • Liver(4.5)
  • Blood(3.5)
  • Eye(2.8)
  • Intestine(2.4)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTHFR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with MTHFR: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MTHFR Gene

Orthologs for MTHFR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTHFR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTHFR 33 32
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTHFR 33 32
  • 88.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTHFR 33 32
  • 88.53 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mthfr 17 33 32
  • 86.78 (n)
oppossum
(Monodelphis domestica)
Mammalia MTHFR 33
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTHFR 33
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mthfr 32
  • 85.68 (n)
chicken
(Gallus gallus)
Aves MTHFR 33 32
  • 78.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTHFR 33
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfr 32
  • 71.71 (n)
Str.513 32
African clawed frog
(Xenopus laevis)
Amphibia mthfr-prov 32
zebrafish
(Danio rerio)
Actinopterygii mthfr 33 32
  • 73.9 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7560 33
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mthf-1 33 32
  • 53.28 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR170W 32
  • 54.56 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET13 35 35 35 33 32
  • 51.55 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09647g 32
  • 49.71 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MTHFR1 32
  • 52.03 (n)
rice
(Oryza sativa)
Liliopsida Os03g0815200 32
  • 53.58 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.1973 32
wheat
(Triticum aestivum)
Liliopsida Ta.1521 32
corn
(Zea mays)
Liliopsida Zm.475 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2215 33
  • 60 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07690 32
  • 55.06 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes met9 32
  • 49.52 (n)
Species where no ortholog for MTHFR was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MTHFR Gene

ENSEMBL:
Gene Tree for MTHFR (if available)
TreeFam:
Gene Tree for MTHFR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTHFR: view image

Paralogs for MTHFR Gene

Paralogs for MTHFR Gene

genes like me logo Genes that share paralogs with MTHFR: view

Variants for MTHFR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MTHFR Gene

MTHR_HUMAN-P42898
Genetic variation in MTHFR influences susceptibility to occlusive vascular disease, neural tube defects (NTD), colon cancer and acute leukemia.

Sequence variations from dbSNP and Humsavar for MTHFR Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057519359 pathogenic, Homocysteinemia due to MTHFR deficiency 11,802,880(-) C/T splice_donor_variant
rs1057519360 pathogenic, Homocysteinemia due to MTHFR deficiency 11,801,220(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057519361 pathogenic, Homocysteinemia due to MTHFR deficiency 11,796,382(-) G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057519362 pathogenic, Homocysteinemia due to MTHFR deficiency 11,796,324(-) CCC/CC coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1057519363 pathogenic, Homocysteinemia due to MTHFR deficiency 11,792,317(-) C/ coding_sequence_variant, frameshift, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MTHFR Gene

Variant ID Type Subtype PubMed ID
nsv518652 CNV loss 19592680

Variation tolerance for MTHFR Gene

Residual Variation Intolerance Score: 60% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.52; 95.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTHFR Gene

Human Gene Mutation Database (HGMD)
MTHFR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTHFR

SNP Genotyping and Copy Number Assay Products

Disorders for MTHFR Gene

MalaCards: The human disease database

(158) MalaCards diseases for MTHFR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MTHFR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MTHR_HUMAN
  • Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]: Autosomal recessive disorder with a wide range of features including homocysteinuria, homocysteinemia [MIM:603174], developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders. {ECO:0000269 PubMed:10679944, ECO:0000269 PubMed:20236116, ECO:0000269 PubMed:25736335, ECO:0000269 PubMed:25818041, ECO:0000269 PubMed:7726158, ECO:0000269 PubMed:8940272, ECO:0000269 PubMed:9781030}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. {ECO:0000269 PubMed:15534175}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Neural tube defects, folate-sensitive (NTDFS) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269 PubMed:10323741, ECO:0000269 PubMed:7564788, ECO:0000269 PubMed:8826441}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Schizophrenia (SCZD) [MIM:181500]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269 PubMed:15729744, ECO:0000269 PubMed:18583979}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for MTHFR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MTHFR: view

No data available for Genatlas for MTHFR Gene

Publications for MTHFR Gene

  1. A common haplotype on methylenetetrahydrofolate reductase gene modifies the effect of angiotensin-converting enzyme inhibitor on blood pressure in essential hypertension patients--a family-based association study. (PMID: 16081343) Jiang S … Xu X (Clinical and experimental hypertension (New York, N.Y. : 1993) 2005) 3 23 26 43 56
  2. Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients. (PMID: 11979347) Nakamura T … Hata A (American journal of kidney diseases : the official journal of the National Kidney Foundation 2002) 3 23 26 43 56
  3. Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults. (PMID: 10536004) Skibola CF … Morgan G (Proceedings of the National Academy of Sciences of the United States of America 1999) 3 4 23 43 56
  4. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. (PMID: 7920641) Goyette P … Rozen R (Nature genetics 1994) 2 3 4 23 56
  5. Gene polymorphisms in association with emerging cardiovascular risk markers in adult women. (PMID: 20078877) Fan AZ … Mokdad AH (BMC medical genetics 2010) 3 23 43 56

Products for MTHFR Gene