|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:G6PD
gptkb:G6PD1
gptkb:G6PDH
gptkb:glucose-6-phosphate_1-dehydrogenase
|
|
gptkbp:associatedWith
|
gptkb:G6PD_deficiency
gptkb:anemia
gptkb:favism
|
|
gptkbp:clinicalTrialPhase
|
G6PD enzyme activity assay
|
|
gptkbp:conservedIn
|
mammals
vertebrates
eukaryotes
|
|
gptkbp:encodes
|
gptkb:glucose-6-phosphate_dehydrogenase
|
|
gptkbp:Entrez_Gene_ID
|
2539
|
|
gptkbp:enzymeCommissionNumber
|
1.1.1.49
|
|
gptkbp:expressedIn
|
all human tissues
|
|
gptkbp:firstDescribed
|
1956
|
|
gptkbp:fullName
|
gptkb:glucose-6-phosphate_dehydrogenase_gene
|
|
gptkbp:function
|
catalyzes the first step in the pentose phosphate pathway
produces NADPH
|
|
gptkbp:gene
|
gptkb:G6PD
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:4057
|
|
gptkbp:highestExpression
|
liver
red blood cells
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
G6PD gene
|
|
gptkbp:inheritance
|
X-linked
|
|
gptkbp:involvedIn
|
gptkb:pentose_phosphate_pathway
|
|
gptkbp:length
|
515 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:Xq28
gptkb:X_chromosome
|
|
gptkbp:molecularWeight
|
59 kDa
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
insertion
missense
|
|
gptkbp:numberOfExons
|
13
|
|
gptkbp:numberOfTranscriptVariants
|
multiple
|
|
gptkbp:OMIM
|
305900
|
|
gptkbp:orthologInMouse
|
gptkb:G6pdx
|
|
gptkbp:orthologInYeast
|
ZWF1
|
|
gptkbp:pathway
|
carbohydrate metabolism
antioxidant defense
|
|
gptkbp:proteinFamily
|
gptkb:G6PD/6PGL_family
|
|
gptkbp:referenceGenome
|
gptkb:NM_000402
|
|
gptkbp:referenceProteinSequence
|
gptkb:NP_000393
|
|
gptkbp:regulates
|
histone modification
transcriptional
|
|
gptkbp:requires
|
protection against oxidative stress
|
|
gptkbp:UniProtID
|
P11413
|
|
gptkbp:bfsParent
|
gptkb:NP_000445.1
|
|
gptkbp:bfsLayer
|
6
|