|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:GCSP
gptkb:GLD
gptkb:GCE
P
GL
GLDC1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:nonketotic_hyperglycinemia
|
|
gptkbp:biologicalProcess
|
glycine catabolic process
glycine dehydrogenase activity
|
|
gptkbp:cellularComponent
|
mitochondrial matrix
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for nonketotic hyperglycinemia
|
|
gptkbp:discoveredIn
|
1980s
|
|
gptkbp:encodes
|
gptkb:glycine_dehydrogenase_(decarboxylating)
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000105221
2731
|
|
gptkbp:expressedIn
|
brain
liver
|
|
gptkbp:fullName
|
glycine decarboxylase gene
|
|
gptkbp:function
|
catalyzes the degradation of glycine
|
|
gptkbp:gene
|
gptkb:GLDC
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
4313
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GLDC gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:interactsWith
|
AMT protein
DLD protein
GCSH protein
|
|
gptkbp:length
|
1020 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:9p24.1
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
duplication
splice-site
glycine accumulation
|
|
gptkbp:numberOfExons
|
25
|
|
gptkbp:OMIM
|
238300
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Gldc
|
|
gptkbp:orthologInZebrafish
|
gldc
|
|
gptkbp:pathway
|
gptkb:glycine_cleavage_system
|
|
gptkbp:proteinFamily
|
aminomethyltransferase family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:transcriptVariantCount
|
multiple
|
|
gptkbp:UniProtID
|
P23378
|
|
gptkbp:bfsParent
|
gptkb:Glycine_Encephalopathy
gptkb:Nonketotic_Hyperglycinemia
gptkb:glycine_cleavage_system_P-protein
gptkb:nonketotic_hyperglycinemia
|
|
gptkbp:bfsLayer
|
8
|