|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:GCE
aminomethyltransferase (glycine cleavage system T protein)
GCE1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:glycine_encephalopathy
|
|
gptkbp:component
|
gptkb:glycine_cleavage_system
|
|
gptkbp:discoveredIn
|
1990s
|
|
gptkbp:encodes
|
gptkb:aminomethyltransferase
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000114054
275
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
liver
|
|
gptkbp:fullName
|
aminomethyltransferase gene
|
|
gptkbp:function
|
catalyzes transfer of methylamine group from glycine
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
471
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
AMT gene
|
|
gptkbp:length
|
403 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3
gptkb:3p21.1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:nonketotic_hyperglycinemia
|
|
gptkbp:OMIM
|
238310
|
|
gptkbp:orthologInMouse
|
Amt
|
|
gptkbp:RefSeq
|
NM_000481
|
|
gptkbp:UniProtID
|
P48728
|
|
gptkbp:bfsParent
|
gptkb:Glycine_Encephalopathy
gptkb:Nonketotic_Hyperglycinemia
gptkb:nonketotic_hyperglycinemia
|
|
gptkbp:bfsLayer
|
8
|