Aliases for GYG1 Gene
External Ids for GYG1 Gene
Previous HGNC Symbols for GYG1 Gene
Previous GeneCards Identifiers for GYG1 Gene
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.[provided by RefSeq, Sep 2010]
GeneCards Summary for GYG1 Gene
GYG1 (Glycogenin 1) is a Protein Coding gene. Diseases associated with GYG1 include Glycogen Storage Disease Xv and Polyglucosan Body Myopathy 2. Among its related pathways are Diseases of carbohydrate metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and glycogenin glucosyltransferase activity. An important paralog of this gene is GYG2.
UniProtKB/Swiss-Prot Summary for GYG1 Gene
Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.