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Gene: MTHFR (methylenetetrahydrofolate reductase) Homo sapiens
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Symbol: MTHFR
Name: methylenetetrahydrofolate reductase
Description: Exhibits flavin adenine dinucleotide binding activity; methylenetetrahydrofolate reductase (NAD(P)H) activity; and modified amino acid binding activity. Involved in several processes, including heterochromatin maintenance; sulfur amino acid metabolic process; and tetrahydrofolate interconversion. Predicted to localize to the cytosol. Implicated in several diseases, including carcinoma (multiple); cardiovascular system disease (multiple); eye disease (multiple); hematologic cancer (multiple); and kidney failure (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 5,10-methylenetetrahydrofolate reductase (NADPH); methylenetetrahydrofolate reductase (NAD(P)H)
Orthologs:
Mus musculus (house mouse) : Mthfr (methylenetetrahydrofolate reductase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Mthfr (methylenetetrahydrofolate reductase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mthfr (methylenetetrahydrofolate reductase)
Pan paniscus (bonobo/pygmy chimpanzee) : MTHFR (methylenetetrahydrofolate reductase)
Canis lupus familiaris (dog) : MTHFR (methylenetetrahydrofolate reductase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mthfr (methylenetetrahydrofolate reductase)
Sus scrofa (pig) : MTHFR (methylenetetrahydrofolate reductase)
Chlorocebus sabaeus (green monkey) : MTHFR (methylenetetrahydrofolate reductase)
Heterocephalus glaber (naked mole-rat) : Mthfr (methylenetetrahydrofolate reductase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl111,785,723 - 11,806,455 (-)Ensembl
GRCh38 Ensembl111,785,723 - 11,806,920 (-)Ensembl
GRCh38111,785,723 - 11,806,103 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37111,845,787 - 11,866,160 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,768,374 - 11,788,702 (-)NCBINCBI36hg18NCBI36
Build 34111,780,944 - 11,800,248NCBI
Celera110,959,433 - 10,979,782 (-)NCBI
Cytogenetic Map1p36.22NCBI
HuRef111,000,872 - 11,021,217 (-)NCBIHuRef
CHM1_1111,833,709 - 11,854,054 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences