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Methylenetetrahydrofolate reductase

MTHFR
Identifiers
Aliases MTHFR, entrez:4524
External IDs OMIM: 607093 MGI: 106639 HomoloGene: 4349 GeneCards: MTHFR
RNA expression pattern
PBB GE MTHFR 206800 at tn.png

PBB GE MTHFR 217070 at tn.png

PBB GE MTHFR 217071 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005957
NM_001330358

NM_001161798
NM_010840

RefSeq (protein)

NP_001317287
NP_005948

NP_034970.2
NP_001155270
NP_034970

Location (UCSC) Chr 1: 11.79 – 11.81 Mb Chr 4: 148.04 – 148.06 Mb
PubMed search
methylene tetrahydrofolate reductase [NAD(P)H]
MTHFR reaction.svg
Schematic diagram of the reductive carbon-nitrogen bond cleavage (represented by wavy line) catalyzed by methylenetetrahydrofolate reductase.
Identifiers
EC number 1.5.1.20
CAS number 9028-69-7
Databases
IntEnz IntEnz view
BRENDA BRENDA entry
ExPASy NiceZyme view
KEGG KEGG entry
MetaCyc metabolic pathway
PRIAM profile
PDB structures RCSB PDB PDBe PDBsum
Gene Ontology AmiGO / EGO

NM_005957
NM_001330358

NM_001161798
NM_010840

NP_001317287
NP_005948

NP_034970.2
NP_001155270
NP_034970

Methylene tetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. Natural variation in this gene is common in healthy people. Although some variants have been reported to influence susceptibility to occlusive vascular disease, neural tube defects, Alzheimer's disease and other forms of dementia, colon cancer, and acute leukemia, findings from small early studies have not been reproduced. Some mutations in this gene are associated with methylene tetrahydrofolate reductase deficiency.


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Wikipedia

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