|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:GSD1
gptkb:GSD1A
gptkb:glucose-6-phosphatase,_catalytic_subunit
GSDIa
|
|
gptkbp:associatedWith
|
gptkb:glycogen_storage_disease_type_Ia
|
|
gptkbp:clinicalTrialPhase
|
available
|
|
gptkbp:discoveredBy
|
gptkb:Arion_et_al.
|
|
gptkbp:encodes
|
gptkb:glucose-6-phosphatase_catalytic_subunit
|
|
gptkbp:Entrez_Gene_ID
|
2538
|
|
gptkbp:expressedIn
|
gptkb:kidney
liver
intestine
|
|
gptkbp:firstDescribed
|
1993
|
|
gptkbp:function
|
catalyzes hydrolysis of glucose-6-phosphate to glucose and phosphate
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
NM_000151
|
|
gptkbp:HGNC_ID
|
4050
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
G6PC gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
12 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
gptkb:17q21
|
|
gptkbp:mutationAssociatedWith
|
gptkb:von_Gierke_disease
|
|
gptkbp:OMIM
|
613742
|
|
gptkbp:orthologInMouse
|
gptkb:G6pc
|
|
gptkbp:pathway
|
glycogenolysis
gluconeogenesis
|
|
gptkbp:product
|
gptkb:glucose-6-phosphatase_alpha
|
|
gptkbp:relatedTo
|
gptkb:glucose-6-phosphatase_family
|
|
gptkbp:UniProtID
|
P35575
|
|
gptkbp:bfsParent
|
gptkb:BEAM-301
|
|
gptkbp:bfsLayer
|
6
|