GYG1, Official Symbol GYG1provided by HGNC Official Full Name glycogenin 1provided by HGNC Primary source HGNC:HGNC:4699 See related Ensembl:ENSG00000163754 MIM:603942; AllianceGenome:HGNC:4699 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GYG; GSD15 Summary 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] Expression Broad expression in bone marrow (RPKM 53.8), testis (RPKM 49.1) and 25 other tissues See more Orthologs mouse all