The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

GYS2  -  glycogen synthase 2 (liver)

Homo sapiens

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of GYS2

  • A 7 year-old boy presenting with growth retardation, fasting hypoglycemia and ketoacidosis was diagnosed as having both idiopathic growth hormone (GH) deficiency and hepatic glycogen synthase (GS) deficiency caused by a homozygous mutation in exon 5 of the liver glycogen synthase gene (GYS-2) [1].

High impact information on GYS2

  • To investigate whether mutations in the liver GS gene (GYS2) on chromosome 12p12.2 were involved in GSD-0, we determined the exon-intron structure of the GYS2 gene and examined nine affected children from five families for linkage of GSD-0 to the GYS2 gene [2].
  • Mutation screening of the 16 GYS2 exons was done by single-strand conformational polymorphism (SSCP) and direct sequencing [2].


  1. Effect of growth hormone treatment on hypoglycemia in a patient with both hepatic glycogen synthase and isolated growth hormone deficiencies. Blümel, P., Mullis, P.E. Journal of pediatric endocrinology & metabolism : JPEM. (2001) [Pubmed]
  2. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. Orho, M., Bosshard, N.U., Buist, N.R., Gitzelmann, R., Aynsley-Green, A., Blümel, P., Gannon, M.C., Nuttall, F.Q., Groop, L.C. J. Clin. Invest. (1998) [Pubmed]
WikiGenes - Universities