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Gene Review

GYS1  -  glycogen synthase 1 (muscle)

Homo sapiens

Synonyms: GSY, GYS
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Disease relevance of GYS1


High impact information on GYS1

  • Mice lacking this glucose reserve in muscle, heart, and several other tissues were generated by disruption of the GYS1 gene, which encodes an isoform of glycogen synthase [2].
  • We have performed a detailed comparative analysis of the GYS1 gene, mRNA, and protein product in insulin-sensitive and insulin-resistant Pima Indians [1].
  • We have performed linkage and association analyses of GYS1 and seven additional DNA markers on 19q with NIDDM, and with parameters of insulin action in the Pima Indians [1].
  • Skeletal muscle glycogen synthase (encoded by GYS1 on chromosome 19q13.3) is the rate-limiting enzyme in insulin-mediated non-oxidative glucose disposal [1].
  • We have found a significant association of NIDDM with GYS1 genotypes (p = 0.009), and with common GYS1 alleles (p = 0.022) in the Pima Indians [1].

Analytical, diagnostic and therapeutic context of GYS1

  • These results contrasted with a 25% reduction of immunoreactive protein in insulin-resistant subjects as detected by Western blotting with an antibody specific for the C-terminal end of GYS1 (t-test p = 0.024; Wilcoxon's rank-sum test, p = 0.04) [1].


  1. Association of the glycogen synthase locus on 19q13 with NIDDM in Pima Indians. Majer, M., Mott, D.M., Mochizuki, H., Rowles, J.C., Pedersen, O., Knowler, W.C., Bogardus, C., Prochazka, M. Diabetologia (1996) [Pubmed]
  2. Abnormal cardiac development in the absence of heart glycogen. Pederson, B.A., Chen, H., Schroeder, J.M., Shou, W., DePaoli-Roach, A.A., Roach, P.J. Mol. Cell. Biol. (2004) [Pubmed]
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