glycogen synthase 1 (muscle) [Source:HGNC Symbol;Acc: 4706] GSY, GYS. Chromosome 19: 49,471,382-49,496,567 reverse strand. GRCh37:CM000681.1. This gene has 10 transcripts (splice variants), 1 paralogue and is associated with 2 phenotypes. Show transcript table.

Jan 4, 2025 · Clinical resource with information about GYS1, Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men., Glycogen storage disease due to muscle and heart glycogen synthase deficiency, and available tests.

Mar 30, 2025 · GYS1 (Glycogen Synthase 1) is a Protein Coding gene. Diseases associated with GYS1 include Glycogen Storage Disease 0, Muscle and Glycogen Storage Disease Due To Muscle And Heart Glycogen Synthase Deficiency. Among its related pathways are Activation of cAMP-Dependent PKA and Glycogen metabolism.

May 9, 2014 · R309 is conserved in human GYS1 and lies in a region that shares extensive identity with human GYS1. Functional analysis demonstrated elevated glycogen synthase activity in PSSM horses, indicating that R309H is a gain-of-function mutation.

The GYS1 gene provides instructions for making an enzyme called muscle glycogen synthase. Muscle glycogen synthase is produced in most cells but is most abundant in heart (cardiac) muscle and muscles used for movement (skeletal muscles).

Apr 8, 2025 · Glycogen synthase 1 (GYS1), the key metabolic enzyme for glycogenesis, is a nucleocytoplasmic shuttling protein compartmentalized in the cytosol and nucleus. However, the spatiotemporal...

Jan 19, 2025 · GYS1 is a nucleocytoplasmic shuttling protein compartmentalized in the cytosol and nucleus of cells. At least three types of GYS1 protein bodies have been observed: (1) cytosolic GYS1 granules or glycosomes (of various sizes) under normal culture conditions; (2) …

Jan 17, 2024 · Here, Ullman and colleagues developed a selective inhibitor of glycogen synthase 1 (GYS1) called MZ-101 to reduce glycogen production specifically in skeletal muscle. In a mouse model of Pompe disease, MZ-101 decreased accumulation of glycogen in skeletal muscle to amounts seen with ERT.

Nov 10, 2021 · We demonstrate that p38γ/δ contribute to the early postnatal cardiac metabolic switch through inhibitory phosphorylation of glycogen synthase 1 (GYS1) and glycogen metabolism inactivation.

In kidney tissues, glycogen synthase 1 (GYS1) is the most important rate-limiting enzyme functioning in the last step of glycogen synthesis 5. Pathologically, its deficiency has been shown to cause muscle glycogen storage disease type 0 and death 6, 7.