Entity Details

Primary name GYG1
Entity type gene
Source Source Link

Details

PrimaryID2992
RefseqGeneNG_027677
SymbolGYG1
Nameglycogenin 1
Chromosome3
Location3q24
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGLYG_HUMAN

GO terms

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GOName
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0005978 glycogen biosynthetic process
GO:0008466 glycogenin glucosyltransferase activity
GO:0016020 membrane
GO:0016757 glycosyltransferase activity
GO:0030145 manganese ion binding
GO:0034774 secretory granule lumen
GO:0042803 protein homodimerization activity
GO:0043202 lysosomal lumen
GO:0043312 neutrophil degranulation
GO:0102751 UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity
GO:1904813 ficolin-1-rich granule lumen

Diseases

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Disease IDSourceNameDescription
613507 OMIMGlycogen storage disease 15 (GSD15)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. The disease is caused by variants affecting the gene represented in this entry.
616199 OMIMPolyglucosan body myopathy 2 (PGBM2)A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase. The disease is caused by variants affecting the gene represented in this entry.