GYS1 - Glycogen [starch] synthase, muscle - human protein (Medical)
 
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GYS1 »  Glycogen [starch] synthase, muscle   [ EC 2.4.1.11 ]
 
Gene name:  GYS1
Family name: Glycosyltransferase 3
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 48 2
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

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Disease 
Muscle glycogen storage disease 0 (GSD0b) [MIM:611556]: Metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood. The role of muscle glycogen is to provide critical energy during bursts of activity and sustained muscle work. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Glycogen storage disease due to muscle and heart glycogen synthase deficiency  137625  
 

Keywords

Disease 
Diabetes mellitus  definition   [KW-0219]
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 2997
MIM: 611556
PharmGKB: PA29084
Polymorphism databases
DMDM: 1351366
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.