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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
  • EC 6.3.4.3 61

External Ids for MTHFD1 Gene

Previous HGNC Symbols for MTHFD1 Gene

  • MTHFC
  • MTHFD

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 Upper Thoracic Spina Bifida Aperta. Among its related pathways are One carbon pool by folate and histidine degradation. 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

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

Regulatory Elements for MTHFD1 Gene

Enhancers for MTHFD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G064386 1.1 ENCODE 29.5 +0.5 495 3.4 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 MTHFD1 ENSG00000214770 AKAP5 PPP2R5E LOC102723809 ENSG00000272909
GH14G064390 1 Ensembl ENCODE 28.9 +3.8 3820 1.8 CTCF TAF1 TEAD4 CHD7 BCL11B YY1 ZNF366 SCRT2 HNF4G EGR2 MTHFD1 AKAP5 ZBTB1 ZBTB25 ENSG00000272909
GH14G064191 1.2 ENCODE dbSUPER 11 -193.4 -193384 6.5 PKNOX1 CBX3 WRNIP1 GLIS2 FOS RELB IKZF2 SMARCA5 NFYC GATAD2B ESR2 MTHFD1 PIR41332 GC14M064162
GH14G064200 1.1 Ensembl ENCODE dbSUPER 10.2 -187.2 -187159 1.9 CTCF CTBP1 NR2F1 ZSCAN4 ZFX NR2F2 MTHFD1 PIR41332 GC14M064162
GH14G064700 2 FANTOM5 Ensembl ENCODE dbSUPER 5.3 +318.0 318000 10.4 HNRNPUL1 HDGF FOXA2 PKNOX1 ARID4B SIN3A ZBTB7B YY1 CBX5 ZNF143 PLEKHG3 MAX ENSG00000272158 PPP1R36 ZBTB25 ENSG00000258824 GPX2 CHURC1 SYNE2 MTHFD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTHFD1 on UCSC Golden Path with GeneCards custom track

Promoters for MTHFD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000069611 469 3001 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for MTHFD1 Gene

Chromosome:
14
Start:
64,388,031 bp from pter
End:
64,463,457 bp from pter
Size:
75,427 bases
Orientation:
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:
    P11586-C1TC_HUMAN
    Recommended name:
    C-1-tetrahydrofolate synthase, cytoplasmic
    Protein Accession:
    P11586
    Secondary Accessions:
    • B2R5Y2
    • G3V2B8
    • Q86VC9
    • Q9BVP5

    Protein attributes for MTHFD1 Gene

    Size:
    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

Selected DME Specific Peptides for MTHFD1 Gene

P11586:
  • GGGYSQV
  • GFGNLPIC
  • LMQTLEG
  • RALKMHGG
  • TMPGLPTRP
  • GPFANIAHG
  • PICMAKT
  • RASVGAGF
  • TPTPLGEGK
  • EKFFNIK
  • GIKGGAAG
  • NLHLTGD
  • KGGAAGGG
  • HAITAANN
  • VVTEAGFG
  • KTHLSLS
  • FFNIKCR
  • VASEIMA
  • VATVRALK
  • KDAIKPN
  • HAGPFANIA

Post-translational modifications for MTHFD1 Gene

  • Ubiquitination at Lys58, Lys150, Lys354, Lys370, posLast=543543, Lys588, posLast=784784, and posLast=819819
  • Modification sites at PhosphoSitePlus

Other Protein References for MTHFD1 Gene

Domains & Families for MTHFD1 Gene

Gene Families for MTHFD1 Gene

Suggested Antigen Peptide Sequences for MTHFD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P11586

UniProtKB/Swiss-Prot:

C1TC_HUMAN :
  • 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.
Domain:
  • 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.
Family:
  • 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

GENATLAS Biochemistry:
folate dependent,trifunctional enzyme catalyzing the oxidation of 5 methy THF for use in purine biosynthesis(see THFC,THFD,THFS)
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.

Enzyme Numbers (IUBMB) 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 IEA,TAS --
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:

Animal Model Products

CRISPR Products

miRNA for MTHFD1 Gene

miRTarBase miRNAs that target MTHFD1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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

Cytoplasm.

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

Gene Ontology (GO) - Cellular Components for MTHFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
GO:0005739 mitochondrion TAS,IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 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 IEA,ISS --
GO:0006164 purine nucleotide biosynthetic process IEA,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
Tetrahydrofolic acid Approved Nutra Target, cofactor 0
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1551
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
10-formyltetrahydrofolate
  • 10-Formyl-(6RS)-tetrahydrofolic acid
  • 10-Formyl-H4PteGlu1
  • 10-Formyl-tetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolate
2800-34-2
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyl-THF
  • 5,10-Methenyltetrahydrofolate
  • Anhydro-leucovorin
  • Anhydro-leucovorin a
  • Anhydroleucovorin
7444-29-3
5,10-Methylene-THF
  • (6R)-5,10-methylenetetrahydrofolate
  • 5,10-Methenyltetrahydropteroylglutamate
  • 5,10-Methylene-6-Hydrofolate
  • 5,10-Methylene-6-Hydrofolic acid
  • 5,10-Methylene-THF
31690-11-6
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with MTHFD1: view

Transcripts for MTHFD1 Gene

Unigene Clusters for MTHFD1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MTHFD1 Gene

GeneLoc Exon Structure for
MTHFD1
ECgene alternative splicing isoforms for
MTHFD1

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, PaxDb, MaxQB, and MOPED for MTHFD1 Gene



Protein tissue co-expression partners for MTHFD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MTHFD1 Gene:

MTHFD1

SOURCE GeneReport for Unigene cluster for MTHFD1 Gene:

Hs.652308

mRNA Expression by UniProt/SwissProt for MTHFD1 Gene:

P11586-C1TC_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia MTHFD1 34 35
  • 97.43 (n)
dog
(Canis familiaris)
Mammalia MTHFD1 34 35
  • 91.23 (n)
cow
(Bos Taurus)
Mammalia MTHFD1 34 35
  • 89.23 (n)
oppossum
(Monodelphis domestica)
Mammalia MTHFD1 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mthfd1 34
  • 87.88 (n)
mouse
(Mus musculus)
Mammalia Mthfd1 34 16 35
  • 87.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTHFD1 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTHFD1 34 35
  • 75.83 (n)
lizard
(Anolis carolinensis)
Reptilia MTHFD1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfd1 34
  • 73.53 (n)
Str.3283 34
African clawed frog
(Xenopus laevis)
Amphibia mthfd1-prov 34
zebrafish
(Danio rerio)
Actinopterygii mthfd1b 34 35
  • 70.35 (n)
mthfd1a 35
  • 57 (a)
OneToMany
mthfd1 34
fruit fly
(Drosophila melanogaster)
Insecta pug 36 34 35
  • 60.06 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002830 34
  • 59.36 (n)
worm
(Caenorhabditis elegans)
Secernentea K07E3.4a 36
  • 70 (a)
K07E3.4b 36
  • 70 (a)
K07E3.4 34 35
  • 64.03 (n)
dao-3 36 35
  • 53 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E16545g 34
  • 59.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE3 34 35 37
  • 58.17 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL121C 34
  • 56.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons THFS 34
  • 61.49 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7494 34
rice
(Oryza sativa)
Liliopsida Os09g0446800 34
  • 60.42 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.14577 34
corn
(Zea mays)
Liliopsida Zm.13856 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4044 35
  • 69 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03877 34
  • 58.32 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC839.16 34
  • 57.71 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2498 34
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

ENSEMBL:
Gene Tree for MTHFD1 (if available)
TreeFam:
Gene Tree for MTHFD1 (if available)

Paralogs for MTHFD1 Gene

Paralogs for MTHFD1 Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs2236225 other, Neural tube defects, folate-sensitive (NTDFS) [MIM:601634] 64,442,127(-) CGATC(C/T)GGTCT reference, missense
rs34181110 other, Neural tube defects, folate-sensitive (NTDFS) [MIM:601634] 64,425,752(+) CAAGC(A/G)TTTCC reference, missense
rs864309594 Uncertain significance 64,431,860(+) GTTAA(A/C)GGTAA reference, missense
rs796064510 untested 64,424,902(+) GCGTA(C/G)GGCCC reference, missense
rs1000002948 -- 64,386,825(+) ATAAG(-/A)AAAAA upstream-variant-2KB

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)

Relevant External Links for MTHFD1 Gene

Human Gene Mutation Database (HGMD)
MTHFD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTHFD1

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: OMIM, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

C1TC_HUMAN
  • 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.
  • 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.
  • 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}.

Relevant External Links for MTHFD1

Genetic Association Database (GAD)
MTHFD1
Human Genome Epidemiology (HuGE) Navigator
MTHFD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTHFD1
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 K.E. … Rozen R. (Hum. Mutat. 2009) 3 4 22 46 64
  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 J.M. (Eur. J. Hum. Genet. 2006) 3 4 22 46 64
  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 L.C. … Swanson D.A. (Am. J. Hum. Genet. 2002) 3 4 22 46 64
  4. Polymorphic variants of folate metabolism genes and the risk of laryngeal cancer. (PMID: 19649727) Kruszyna A.8. … JagodziA8ski P.P. (Mol. Biol. Rep. 2010) 3 22 46 64
  5. MTHFR c.1793G>A polymorphism is associated with congenital cardiac disease in a Chinese population. (PMID: 20374669) Xu J. … Chen Y. (Cardiol Young 2010) 3 22 46 64

Products for MTHFD1 Gene

Sources for MTHFD1 Gene

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