amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

Summary
Gene Symbol
  • AGL
Aliases
  • GDE
  • glycogen debranching enzyme
  • glycogen storage disease type III
Organism
Homo sapiens (human)
External Links
NCBI Gene
178
HGNC
321
KEGG Gene ID
hsa:178
PubChem
178
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Glycogen biosynthesis
  • Glycogen storage disease
  • Glycosidase
  • Glycosyltransferase
  • Multifunctional enzyme
  • Phosphoprotein
  • Reference proteome
  • Ubl conjugation
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A0S2A4E4
  • Glycogen debrancher
P35573
  • Glycogen debrancher
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K01196
Name
glycogen debranching enzyme [EC:2.4.1.25 3.2.1.33]
References
Disease
Disease Ontology
Displaying entries 51 - 60 of 91 in total
DO ID Disease Name Source
DOID:1029 familial periodic paralysis
DOID:10718 giardiasis
DOID:1074 kidney failure
DOID:11054 urinary bladder cancer
DOID:1168 familial hyperlipidemia
DOID:11712 lipoatrophic diabetes mellitus
DOID:11719 oculopharyngeal muscular dystrophy
DOID:11720 distal myopathy
DOID:11723 Duchenne muscular dystrophy
DOID:11724 limb-girdle muscular dystrophy
The Human Phenotype Ontology
Displaying entries 21 - 24 of 24 in total
HPO ID HPO Term
HP:0003693 Distal amyotrophy
HP:0004322 Short stature
HP:0005280 Depressed nasal bridge
HP:0011800 Midface retrusion
Displaying all 2 entries
Disease ID Disease Name
OMIM:232400
  • glycogen storage disease III
ORPHA:366
  • glycogen storage disease III
Ortholog
Displaying entries 101 - 103 of 103 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
103267113 CARSF04719
115611994 STRHB10995
108317256 CEBIM13292

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024