GYS1

Chr 19

glycogen synthase 1

Also known as: GSY, GYS

NCBI Gene: 2997 ENSG00000104812 UniProt: P13807

This enzyme catalyzes the addition of glucose monomers to glycogen through alpha-1,4-glycoside linkage formation, making it essential for glycogen synthesis in muscle. Mutations cause glycogen storage disease type 0 (muscle form), inherited in an autosomal recessive pattern, resulting in deficient glycogen synthesis and muscle weakness due to impaired energy storage.

GeneReviews ResearchSummary from RefSeq, OMIM, Mechanism

The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscle glycogen storage disease 0

Clinical highlights

Gene-disease validity (ClinGen)

glycogen storage disease due to muscle and heart glycogen synthase deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.53

LOEUF

Mechanism· predicted

📖

GeneReview available — GYS1

Authoritative clinical overview · Recommended first read