Gene: GYS2

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content.

Gene is located in Chromosome: 12

Location in Chromosome : 12p12.1

Description of this Gene: glycogen synthase 2

Type of Gene: protein-coding

rs121918419 in GYS2 gene and Glycogen Storage Disease PMID 20051115 2010 A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0.

PMID 9691087 1998 Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

rs121918419 in GYS2 gene and Glycogen Storage Disease 0, Liver PMID 20051115 2010 A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0.

PMID 25070466 2015 Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.

PMID 12072888 2002 Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.

PMID 28245189 2017 The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.

PMID 9691087 1998 Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

rs73085377 in GYS2 gene and response to ACE inhibitor PMID 28084903 2017 Genetic variants associated with angiotensin-converting enzyme inhibitor-induced cough: a genome-wide association study in a Swedish population.