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MGP001970

UniProt Annotations

Entry Information
Gene Namemethylenetetrahydrofolate reductase (NAD(P)H)
Protein EntryMTHR_HUMAN
UniProt IDP42898
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P42898-1; Sequence=Displayed; Name=2; IsoId=P42898-2; Sequence=VSP_053744;
Catalytic Activity5-methyltetrahydrofolate + NAD(P)(+) = 5,10- methylenetetrahydrofolate + NAD(P)H.
CofactorName=FAD; Xref=ChEBI:CHEBI:57692;
DiseaseFolate-sensitive neural tube defects (FS-NTD) [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.
DiseaseIschemic 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.
DiseaseMethylenetetrahydrofolate 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:7726158, ECO:0000269|PubMed:8940272, ECO:0000269|PubMed:9781030}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationAllosterically regulated by S- adenosylmethionine.
FunctionCatalyzes the conversion of 5,10- methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co- substrate for homocysteine remethylation to methionine.
PathwayOne-carbon metabolism; tetrahydrofolate interconversion.
PolymorphismGenetic variation in MTHFR influences susceptibility to occlusive vascular disease, neural tube defects (NTD), colon cancer and acute leukemia.
SimilarityBelongs to the methylenetetrahydrofolate reductase family. {ECO:0000305}.
SubunitHomodimer.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MTHFRID41448ch1p36.html";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mthfr/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=MTHFR";
Web ResourceName=Wikipedia; Note=Methylenetetrahydrofolate reductase entry; URL="http://en.wikipedia.org/wiki/Methylenetetrahydrofolate_reductase";
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