Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:GBE
glycogen branching enzyme 1 |
| gptkbp:associatedWith |
gptkb:Glycogen_storage_disease_type_IV
Adult polyglucosan body disease |
| gptkbp:encodes |
glycogen branching enzyme
|
| gptkbp:Entrez_Gene_ID |
2632
|
| gptkbp:enzymeCommissionNumber |
2.4.1.18
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain liver |
| gptkbp:fullName |
gptkb:1,4-alpha-glucan_branching_enzyme_1
|
| gptkbp:function |
glycogen biosynthesis
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
gptkb:GBE1
|
| https://www.w3.org/2000/01/rdf-schema#label |
GBE1 (human gene)
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_3
3p12.3 |
| gptkbp:OMIM |
607839
|
| gptkbp:orthologInMouse |
gptkb:Gbe1
|
| gptkbp:UniProtID |
P10244
|
| gptkbp:bfsParent |
gptkb:Gbe1
|
| gptkbp:bfsLayer |
8
|