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Aliases for MTHFD1 Gene

Aliases for MTHFD1 Gene

  • Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1 2 3 5
  • Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1, Methenyltetrahydrofolate Cyclohydrolase, Formyltetrahydrofolate Synthetase 2 3
  • C1-THF Synthase 3 4
  • MTHFC 3 4
  • MTHFD 3 4
  • 5,10-Methylenetetrahydrofolate Dehydrogenase, 5,10-Methylenetetrahydrofolate Cyclohydrolase, 10-Formyltetrahydrofolate Synthetase 3
  • C-1-Tetrahydrofolate Synthase, Cytoplasmic 3
  • Cytoplasmic C-1-Tetrahydrofolate Synthase 3
  • CIMAH 3

External Ids for MTHFD1 Gene

Previous HGNC Symbols for MTHFD1 Gene


Previous GeneCards Identifiers for MTHFD1 Gene

  • GC14P062182
  • GC14P058648
  • GC14P062845
  • GC14P063924
  • GC14P064854
  • GC14P045027

Summaries for MTHFD1 Gene

Entrez Gene Summary for MTHFD1 Gene

  • This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]

GeneCards Summary for MTHFD1 Gene

MTHFD1 (Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1) is a Protein Coding gene. Diseases associated with MTHFD1 include Neural Tube Defects, Folate-Sensitive and Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia. Among its related pathways are histidine degradation and Metabolism. Gene Ontology (GO) annotations related to this gene include formate-tetrahydrofolate ligase activity and methylenetetrahydrofolate dehydrogenase (NADP+) activity. An important paralog of this gene is MTHFD1L.

Gene Wiki entry for MTHFD1 Gene

Additional gene information for MTHFD1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTHFD1 Gene

Genomics for MTHFD1 Gene

GeneHancer (GH) Regulatory Elements for MTHFD1 Gene

Promoters and enhancers for MTHFD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J064386 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 679.5 +0.5 494 3.4 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 MTHFD1 TEX21P LOC102723809 AKAP5 SYNE2 ENSG00000272909
GH14J064390 Enhancer 0.8 Ensembl ENCODE 28.9 +3.8 3819 1.8 NANOG TAF1 RXRA ZEB2 REST BCL11B YY1 SP1 JUND ZNF184 MTHFD1 AKAP5 ZBTB1 ZBTB25 ENSG00000272909
GH14J064191 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 11 -193.4 -193383 6.5 PKNOX1 GLIS2 ZNF143 FOS IKZF2 RUNX3 SMARCA5 ZEB2 ELF1 ZNF843 ESR2 MTHFD1 GC14M064162 PIR41332 SYNE2
GH14J064700 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.3 +318.0 318000 10.4 FOXA2 ARID4B SIN3A YY1 FOS SP3 SP5 MXD4 REST SMARCB1 PLEKHG3 MAX ENSG00000214770 PPP1R36 GPX2 CHURC1 SYNE2 MTHFD1 ZBTB1 LOC102723809
GH14J064212 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 10 -173.3 -173304 4 SIX4 PKNOX1 RFX1 DPF2 MNT ZNF217 CTBP1 CREB1 FOS FOSL2 SYNE2 ESR2 MTHFD1 PIR41332 GC14M064162
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTHFD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MTHFD1 gene promoter:
  • STAT5A
  • HOXA5
  • RFX1
  • CBF-C
  • CP1A
  • CP1C
  • NF-Y
  • NF-YA
  • NF-YB
  • NF-YC

Genomic Locations for MTHFD1 Gene

Genomic Locations for MTHFD1 Gene
75,427 bases
Plus strand
71,977 bases
Plus strand

Genomic View for MTHFD1 Gene

Genes around MTHFD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTHFD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTHFD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTHFD1 Gene

Proteins for MTHFD1 Gene

  • Protein details for MTHFD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    C-1-tetrahydrofolate synthase, cytoplasmic
    Protein Accession:
    Secondary Accessions:
    • B2R5Y2
    • G3V2B8
    • Q86VC9
    • Q9BVP5

    Protein attributes for MTHFD1 Gene

    935 amino acids
    Molecular mass:
    101559 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MTHFD1 Gene

neXtProt entry for MTHFD1 Gene

Post-translational modifications for MTHFD1 Gene

  • Ubiquitination at Lys819, isoforms=784, isoforms=588, isoforms=543, isoforms=370, Lys354, Lys150, and Lys58
  • Modification sites at PhosphoSitePlus

Other Protein References for MTHFD1 Gene

No data available for DME Specific Peptides for MTHFD1 Gene

Domains & Families for MTHFD1 Gene

Gene Families for MTHFD1 Gene

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

Suggested Antigen Peptide Sequences for MTHFD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • This trifunctional enzyme consists of two major domains: an N-terminal part containing the methylene-THF dehydrogenase and cyclohydrolase activities and a larger C-terminal part containing formyl-THF synthetase activity.
  • In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.
  • This trifunctional enzyme consists of two major domains: an N-terminal part containing the methylene-THF dehydrogenase and cyclohydrolase activities and a larger C-terminal part containing formyl-THF synthetase activity.
  • In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.
  • In the C-terminal section; belongs to the formate--tetrahydrofolate ligase family.
genes like me logo Genes that share domains with MTHFD1: view

Function for MTHFD1 Gene

Molecular function for MTHFD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
5,10-methylenetetrahydrofolate + NADP(+) = 5,10-methenyltetrahydrofolate + NADPH.
UniProtKB/Swiss-Prot CatalyticActivity:
5,10-methenyltetrahydrofolate + H(2)O = 10-formyltetrahydrofolate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + formate + tetrahydrofolate = ADP + phosphate + 10-formyltetrahydrofolate.
GENATLAS Biochemistry:
folate dependent,trifunctional enzyme catalyzing the oxidation of 5 methy THF for use in purine biosynthesis(see THFC,THFD,THFS)

Phenotypes From GWAS Catalog for MTHFD1 Gene

Gene Ontology (GO) - Molecular Function for MTHFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004329 formate-tetrahydrofolate ligase activity TAS,IEA --
GO:0004477 methenyltetrahydrofolate cyclohydrolase activity TAS --
GO:0004486 methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity TAS --
genes like me logo Genes that share ontologies with MTHFD1: view
genes like me logo Genes that share phenotypes with MTHFD1: view

Animal Models for MTHFD1 Gene

MGI Knock Outs for MTHFD1:
  • Mthfd1 Mthfd1<tm2b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for MTHFD1

CRISPR Products

miRNA for MTHFD1 Gene

miRTarBase miRNAs that target MTHFD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTHFD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTHFD1 Gene

Localization for MTHFD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTHFD1 Gene


Subcellular locations from

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 MTHFD1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 5
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTHFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005739 mitochondrion TAS,IEA 3528153
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with MTHFD1: view

Pathways & Interactions for MTHFD1 Gene

genes like me logo Genes that share pathways with MTHFD1: view

UniProtKB/Swiss-Prot P11586-C1TC_HUMAN

  • Pathway: One-carbon metabolism; tetrahydrofolate interconversion.

Gene Ontology (GO) - Biological Process for MTHFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000105 histidine biosynthetic process IEA --
GO:0001780 neutrophil homeostasis IEA --
GO:0001843 neural tube closure ISS,IEA --
GO:0006164 purine nucleotide biosynthetic process ISS --
GO:0006555 methionine metabolic process IEA,ISS --
genes like me logo Genes that share ontologies with MTHFD1: view

No data available for SIGNOR curated interactions for MTHFD1 Gene

Drugs & Compounds for MTHFD1 Gene

(16) Drugs for MTHFD1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1603
Formic acid Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(15) Additional Compounds for MTHFD1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolic acid
  • 10-Formyl-(6Rs)-tetrahydrofolic acid
  • 10-Formyl-H4pteglu1
  • 10-Formyl-tetrahydrofolate
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyl-THF
  • 5,10-Methenyltetrahydrofolate
  • anhydro-Leucovorin
  • anhydro-Leucovorin a
  • Anhydroleucovorin
  • (6R)-5,10-Methylenetetrahydrofolate
  • (6R)-5,10-Methylenetetrahydrofolic acid
  • 5,10-Methenyltetrahydropteroylglutamate
  • 5,10-Methylene-6-hydrofolate
  • 5,10-Methylene-6-hydrofolic acid
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with MTHFD1: view

Transcripts for MTHFD1 Gene

mRNA/cDNA for MTHFD1 Gene

Unigene Clusters for MTHFD1 Gene

Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTHFD1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTHFD1 Gene

No ASD Table

Relevant External Links for MTHFD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MTHFD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTHFD1 Gene

mRNA differential expression in normal tissues according to GTEx for MTHFD1 Gene

This gene is overexpressed in Liver (x6.2).

Protein differential expression in normal tissues from HIPED for MTHFD1 Gene

This gene is overexpressed in Liver (10.8) and Lymph node (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTHFD1 Gene

Protein tissue co-expression partners for MTHFD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MTHFD1 Gene:


SOURCE GeneReport for Unigene cluster for MTHFD1 Gene:


mRNA Expression by UniProt/SwissProt for MTHFD1 Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MTHFD1 Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Blood(4.5)
  • Eye(4.4)
  • Heart(2.8)
  • Kidney(2.8)
  • Skin(2.6)
  • Lung(2.4)
  • Intestine(2.2)
  • Adrenal gland(2.1)
  • Pancreas(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with MTHFD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTHFD1 Gene

Orthologs for MTHFD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTHFD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MTHFD1 34 33
  • 97.43 (n)
(Canis familiaris)
Mammalia MTHFD1 34 33
  • 91.23 (n)
(Bos Taurus)
Mammalia MTHFD1 34 33
  • 89.23 (n)
(Monodelphis domestica)
Mammalia MTHFD1 34
  • 89 (a)
(Rattus norvegicus)
Mammalia Mthfd1 33
  • 87.88 (n)
(Mus musculus)
Mammalia Mthfd1 16 34 33
  • 87.27 (n)
(Ornithorhynchus anatinus)
Mammalia MTHFD1 34
  • 84 (a)
(Gallus gallus)
Aves MTHFD1 34 33
  • 75.83 (n)
(Anolis carolinensis)
Reptilia MTHFD1 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfd1 33
  • 73.53 (n)
Str.3283 33
African clawed frog
(Xenopus laevis)
Amphibia mthfd1-prov 33
(Danio rerio)
Actinopterygii mthfd1b 34 33
  • 70.35 (n)
mthfd1a 34
  • 57 (a)
mthfd1 33
fruit fly
(Drosophila melanogaster)
Insecta pug 34 35 33
  • 60.06 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002830 33
  • 59.36 (n)
(Caenorhabditis elegans)
Secernentea K07E3.4b 35
  • 70 (a)
K07E3.4a 35
  • 70 (a)
K07E3.4 34 33
  • 64.03 (n)
dao-3 34 35
  • 52 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E16545g 33
  • 59.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE3 34 33
  • 58.17 (n)
MIS1 36
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL121C 33
  • 56.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons THFS 33
  • 61.49 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7494 33
(Oryza sativa)
Liliopsida Os09g0446800 33
  • 60.42 (n)
(Triticum aestivum)
Liliopsida Ta.14577 33
(Zea mays)
Liliopsida Zm.13856 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4044 34
  • 69 (a)
Cin.2498 33
bread mold
(Neurospora crassa)
Ascomycetes NCU03877 33
  • 58.32 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC839.16 33
  • 57.71 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2498 33
Species where no ortholog for MTHFD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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 MTHFD1 Gene

Gene Tree for MTHFD1 (if available)
Gene Tree for MTHFD1 (if available)
Evolutionary constrained regions (ECRs) for MTHFD1: view image

Paralogs for MTHFD1 Gene

Paralogs for MTHFD1 Gene

(4) SIMAP similar genes for MTHFD1 Gene using alignment to 6 proteins:

  • F5H2F4_HUMAN
  • V9GY75_HUMAN
  • V9GZ32_HUMAN
  • V9GZ78_HUMAN Pseudogenes for MTHFD1 Gene

genes like me logo Genes that share paralogs with MTHFD1: view

Variants for MTHFD1 Gene

Sequence variations from dbSNP and Humsavar for MTHFD1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs141210410 pathogenic, COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 64,417,926(+) C/T coding_sequence_variant, missense_variant
rs2236225 risk-factor, benign, Neural tube defects, folate-sensitive, susceptibility to, not specified, Neural tube defects, folate-sensitive (NTDFS) [MIM:601634] 64,442,127(+) G/A coding_sequence_variant, missense_variant
rs34181110 risk-factor, Spina bifida, folate-sensitive, susceptibility to, Neural tube defects, folate-sensitive (NTDFS) [MIM:601634] 64,425,752(+) G/A coding_sequence_variant, missense_variant
rs370444838 pathogenic, COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA 64,411,109(+) C/T coding_sequence_variant, missense_variant
rs760889414 pathogenic, COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA 64,419,871(+) G/T coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for MTHFD1 Gene

Variant ID Type Subtype PubMed ID
esv2670925 CNV deletion 23128226
esv2748779 CNV deletion 23290073
esv3634752 CNV loss 21293372
nsv1113658 CNV deletion 24896259
nsv476124 CNV novel sequence insertion 20440878

Variation tolerance for MTHFD1 Gene

Residual Variation Intolerance Score: 5.65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.17; 90.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTHFD1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTHFD1 Gene

Disorders for MTHFD1 Gene

MalaCards: The human disease database

(23) MalaCards diseases for MTHFD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Neural tube defects, folate-sensitive (NTDFS) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269 PubMed:12384833, ECO:0000269 PubMed:16552426, ECO:0000269 PubMed:9611072}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
  • Note=MTHFD1 deficiency, due to mutation in this gene, can cause a metabolic syndrome with variable features including hyperhomocysteinemia, megaloblastic anemia, hemolytic uremic syndrome (HUS), severe combined immunodeficiency, microangiopathy and retinopathy. Symptoms improve after treatment with hydroxocobalamin, betaine and folinic acid. {ECO:0000269 PubMed:21813566, ECO:0000269 PubMed:25633902}.

Additional Disease Information for MTHFD1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MTHFD1: view

No data available for Genatlas for MTHFD1 Gene

Publications for MTHFD1 Gene

  1. The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. (PMID: 18767138) Christensen KE … Rozen R (Human mutation 2009) 3 4 22 44 58
  2. Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. (PMID: 16552426) Parle-McDermott A … Scott JM (European journal of human genetics : EJHG 2006) 3 4 22 44 58
  3. A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. (PMID: 12384833) Brody LC … Swanson DA (American journal of human genetics 2002) 3 4 22 44 58
  4. Polymorphic variants of folate metabolism genes and the risk of laryngeal cancer. (PMID: 19649727) Kruszyna Ł … Jagodziński PP (Molecular biology reports 2010) 3 22 44 58
  5. MTHFR c.1793G>A polymorphism is associated with congenital cardiac disease in a Chinese population. (PMID: 20374669) Xu J … Chen Y (Cardiology in the young 2010) 3 22 44 58

Products for MTHFD1 Gene

Sources for MTHFD1 Gene

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