|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:MTHFR
5,10-methylene-THF reductase
5,10-methylenetetrahydrofolate reductase
|
|
gptkbp:approvedBy
|
methylenetetrahydrofolate reductase
|
|
gptkbp:approvedSymbol
|
gptkb:MTHFR
|
|
gptkbp:associatedWith
|
gptkb:cardiovascular_disease
neural tube defects
thrombophilia
homocystinuria due to MTHFR deficiency
hyperhomocysteinemia
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gptkbp:Entrez_Gene_ID
|
4524
ENSG00000177000
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|
gptkbp:function
|
catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate
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gptkbp:geneType
|
protein coding
|
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gptkbp:HGNC_ID
|
gptkb:HGNC:7107
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HGNC:7107
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|
gptkbp:locatedOnChromosome
|
1
|
|
gptkbp:location
|
gptkb:1p36.22
|
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gptkbp:locusType
|
gptkb:gene
gene with protein product
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|
gptkbp:OMIM
|
607093
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:pathway
|
one-carbon metabolism
folate metabolism
|
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gptkbp:previousSymbols
|
gptkb:MTHFR
|
|
gptkbp:proteinFamily
|
MTHFR family
|
|
gptkbp:RefSeq
|
NM_005957
|
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gptkbp:status
|
Approved
|
|
gptkbp:symbolSynonym
|
5,10-methylenetetrahydrofolate reductase
|
|
gptkbp:UniProtID
|
P42898
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gptkbp:bfsParent
|
gptkb:MIM_(gene)
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gptkbp:bfsLayer
|
7
|