Structural highlights
Disease
GYS1_HUMAN Glycogen storage disease due to muscle and heart glycogen synthase deficiency. The disease is caused by variants affecting the gene represented in this entry.
Function
GYS1_HUMAN Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Extends the primer composed of a few glucose units formed by glycogenin by adding new glucose units to it. In this context, glycogen synthase transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.[1]
References
- ↑ McCorvie TJ, Loria PM, Tu M, Han S, Shrestha L, Froese DS, Ferreira IM, Berg AP, Yue WW. Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate. Nat Struct Mol Biol. 2022 Jul;29(7):628-638. doi: 10.1038/s41594-022-00799-3., Epub 2022 Jul 14. PMID:35835870 doi:http://dx.doi.org/10.1038/s41594-022-00799-3
