Gene: GYG1

Alternate names for this Gene: GSD15|GYG

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q24

Description of this Gene: glycogenin 1

Type of Gene: protein-coding

rs3772571 in GYG1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6802828 in GYG1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs143137713 in GYG1 gene and GLYCOGEN STORAGE DISEASE XV PMID 25272951 2014 A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

PMID 27718144 2017 Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

PMID 22160680 2011 The Thr83Met mutation, which causes glycogen storage disease XV, is conformationally locked in the ground state and catalytically inactive.

PMID 20357282 2010 Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.

rs143137713 in GYG1 gene and POLYGLUCOSAN BODY MYOPATHY 2 PMID 25272951 2014 A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

PMID 27718144 2017 Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

PMID 20357282 2010 Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.

PMID 29264399 2017 Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

PMID 28453664 2017 Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.

PMID 29143313 2018 Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.