|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
Ralph Green
|
|
gptkbp:encodes
|
methylenetetrahydrofolate reductase (enzyme)
|
|
gptkbp:Entrez_Gene_ID
|
4524
ENSG00000177000
|
|
gptkbp:enzymeCommissionNumber
|
1.5.1.20
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
liver
|
|
gptkbp:fullName
|
methylenetetrahydrofolate reductase
|
|
gptkbp:function
|
catalyzes conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPolymorphism
|
A1298C
C677T
|
|
gptkbp:HGNC_ID
|
HGNC:7436
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MTHFR
|
|
gptkbp:involvedIn
|
homocysteine metabolism
folate metabolism
|
|
gptkbp:length
|
656 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:cardiovascular_disease
gptkb:homocystinuria
neural tube defects
hyperhomocysteinemia
|
|
gptkbp:OMIM
|
607093
|
|
gptkbp:orthologInMouse
|
Mthfr
|
|
gptkbp:pathway
|
methionine cycle
one-carbon metabolism
|
|
gptkbp:UniProtID
|
P42898
|
|
gptkbp:bfsParent
|
gptkb:human_chromosome_1
gptkb:HGNC:7107
|
|
gptkbp:bfsLayer
|
8
|