GYS2

The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]

Description

glycogen synthase 2

Protein family

Disease related genes, Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

12:p12.1 (21536107 - 21604847)

Ensembl ID

ENSG00000111713  (ver. 99.38)

Orthologs

Mouse Gys2: ENSMUSG00000030244

UniProt

P54840

neXtProt

NX_P54840

Human splice variants
Mouse splice variants