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 entry 91 - 91 of 91 in total
DO ID Disease Name Source
DOID:9993 hypoglycemia
The Human Phenotype Ontology
Displaying entries 11 - 20 of 24 in total
HPO ID HPO Term
HP:0001638 Cardiomyopathy
HP:0001714 Ventricular hypertrophy
HP:0001943 Hypoglycemia
HP:0002155 Hypertriglyceridemia
HP:0002240 Hepatomegaly
HP:0002721 Immunodeficiency
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0003077 Hyperlipidemia
HP:0003198 Myopathy
HP:0003236 Elevated circulating creatine kinase concentration
Displaying all 2 entries
Disease ID Disease Name
OMIM:232400
  • glycogen storage disease III
ORPHA:366
  • glycogen storage disease III

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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