GYG1 Antibody – Mouse Monoclonal

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]

glycogenin: Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. Defects in GYG1 are the cause of glycogen storage disease type 15 (GSD15). It is a metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. Belongs to the glycosyltransferase 8 family. Glycogenin subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.4.1.186; Transferase

Chromosomal Location of Human Ortholog: 3q24-q25.1

Cellular Component: membrane; cytosol

Molecular Function: protein binding; metal ion binding; glycogenin glucosyltransferase activity; glucose binding

Biological Process: glycogen biosynthetic process; glycogen catabolic process; carbohydrate metabolic process; glucose metabolic process; pathogenesis