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 1 - 10 of 91 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050440 familial partial lipodystrophy
DOID:0050557 congenital muscular dystrophy
DOID:0050700 cardiomyopathy
DOID:0060255 rippling muscle disease 2
DOID:0060318 acute promyelocytic leukemia
DOID:0060689 atrichia with papular lesions
DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2
DOID:0080092 myofibrillar myopathy 1
DOID:0080094 myofibrillar myopathy 3
The Human Phenotype Ontology
Displaying entries 1 - 10 of 24 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000219 Thin upper lip vermilion
HP:0000233 Thin vermilion border
HP:0000272 Malar flattening
HP:0000293 Full cheeks
HP:0000455 Broad nasal tip
HP:0000490 Deeply set eye
HP:0001256 Intellectual disability, mild
HP:0001324 Muscle weakness
HP:0001395 Hepatic fibrosis
Displaying all 2 entries
Disease ID Disease Name
OMIM:232400
  • glycogen storage disease III
ORPHA:366
  • glycogen storage disease III

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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