|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:P-protein
gptkb:glycine_cleavage_system_P-protein
|
|
gptkbp:associatedWith
|
gptkb:nonketotic_hyperglycinemia
|
|
gptkbp:biologicalProcess
|
oxidoreductase activity
glycine binding
glycine catabolic process
one-carbon metabolic process
|
|
gptkbp:chromosomeArm
|
p
|
|
gptkbp:discoveredBy
|
1980s
|
|
gptkbp:encodes
|
gptkb:glycine_dehydrogenase_(decarboxylating)
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000105221
2731
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
liver
|
|
gptkbp:fullName
|
gptkb:glycine_decarboxylase
|
|
gptkbp:function
|
catalyzes the degradation of glycine
|
|
gptkbp:gene
|
gptkb:GLDC
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOID
|
gptkb:GO:0005739
GO:0004322
GO:0006546
|
|
gptkbp:hasTranscriptVariant
|
NM_000170.2
|
|
gptkbp:HGNC_ID
|
HGNC:4326
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GLDC
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:interactsWith
|
gptkb:DLD
gptkb:AMT
gptkb:GCSH
|
|
gptkbp:length
|
1020
|
|
gptkbp:locatedOnChromosome
|
gptkb:9p24.1
9
|
|
gptkbp:location
|
mitochondrion
|
|
gptkbp:molecularWeight
|
112 kDa
|
|
gptkbp:mutationAssociatedWith
|
glycine accumulation
|
|
gptkbp:numberOfExons
|
25
|
|
gptkbp:OMIM
|
238300
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Gldc
|
|
gptkbp:orthologInZebrafish
|
gldc
|
|
gptkbp:pathway
|
gptkb:glycine,_serine_and_threonine_metabolism
|
|
gptkbp:PDB
|
gptkb:2J9P
|
|
gptkbp:proteinFamily
|
gptkb:glycine_cleavage_system
|
|
gptkbp:RefSeq
|
NM_000170
|
|
gptkbp:significance
|
pathogenic variants cause glycine encephalopathy
|
|
gptkbp:subunit
|
gptkb:glycine_cleavage_system
|
|
gptkbp:UniProtID
|
P23378
|
|
gptkbp:bfsParent
|
gptkb:chromosome_9
|
|
gptkbp:bfsLayer
|
6
|