AlphaFold predicted structure
GYS1 · P13807
Mean pLDDT
84.4/ 100
Confident
737 residues
Confidence breakdown
- Very high(≥ 90)72%
- Confident(70–90)9%
- Low(50–70)4%
- Very low(< 50)15%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
GYS1
Chr 19q13.33glycogen synthase 1
- Aliases:
- GSY
- MANE:
- ENST00000323798.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Acute rhabdomyolysis
BIALLELIC, autosomal or pseudoautosomalGlycogen storage disease
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalRhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Hyperammonaemia
Ketotic hypoglycaemia
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
glycogen storage disease due to muscle and heart glycogen synthase deficiency
0.78disorder of glycogen metabolism
0.53neurodegenerative disease
0.44Glycogen storage disease due to glycogenin deficiency
0.38hereditary disease
0.19breast carcinoma
0.08breast cancer
0.08nonpapillary renal cell carcinoma
0.08hypertrophic cardiomyopathy
0.08Rare familial disorder with hypertrophic cardiomyopathy
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Glycogen [starch] synthase, muscle
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