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Literature summary extracted from

  • Hedberg-Oldfors, C.; Mensch, A.; Visuttijai, K.; Stoltenburg, G.; Stoevesandt, D.; Kraya, T.; Oldfors, A.; Zierz, S.
    Polyglucosan myopathy and functional characterization of a novel GYG1 mutation (2018), Acta Neurol. Scand., 137, 308-315 .
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.4.1.186 gene GYG-1, genotyping Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.4.1.186 D163T a naturall yoccuring truncating 1-base deletion (c.484delG; p.Asp163Thrfs*5) causes reduced expression of glycogenin-1 protein, the phenotype includes altered morphology, muscle weakness and wasting, overview Homo sapiens
2.4.1.186 G135R determination of a naturally occuring missense mutation that causes reduced expression of glycogenin-1 protein and abolishes the enzyme's activity and function, phenotype includes altered morphology, muscle weakness and wasting, overview Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.4.1.186 UDP-alpha-D-glucose + glycogenin Homo sapiens
-
 UDP + alpha-D-glucosylglycogenin
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.4.1.186 Homo sapiens P46976
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.4.1.186 UDP-alpha-D-glucose + glycogenin
-
 Homo sapiens UDP + alpha-D-glucosylglycogenin
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.4.1.186 glycogenin-1
-
 Homo sapiens
2.4.1.186 GN-1 UniProt Homo sapiens
2.4.1.186 GN1 UniProt Homo sapiens
2.4.1.186 GYG1
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.4.1.186 malfunction etiology and pathogenesis of a late-onset myopathy associated with glycogenin-1 deficiency, overview. Two siblings heterozygous for two mutations in the glycogenin-1 gene, one 1-base deletion and one missense mutation, are analyzed. They show remarkably different clinical expression of the disease. There is no clear correlation between the genotype and the phenotypic expression even within the same family. Glycogenin-1 deficiency should be considered as a differential diagnosis in middle-aged and elderly individuals with slowly progressive myopathy, and it may present with highly variable distribution of weakness and wasting. Phenotypes, detailed overview Homo sapiens