Recombinant Human Glycogenin-1 (GYG1)

Uniprot Id

P46976

Target Species

Human

Target Name

GYG1

Target Full Name

Glycogenin-1

Target Function

Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.

Target Involvement

Glycogen storage disease 15 (GSD15); Polyglucosan body myopathy 2 (PGBM2)

Target Protein Families

Glycosyltransferase 8 family, Glycogenin subfamily

Target Tissue Specificity

Highly expressed in skeletal muscle and heart, with lower levels in brain, lung, kidney and pancreas.

Target Synonyms

Glycogenin; Glycogenin-1; Glycogenin1; GLYG_HUMAN; GN-1; GN1; GYG 1; GYG; GYG1

Target Background

This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.