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Literature summary for 2.4.1.186 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
Search for more literature for 2.4.1.186

Cloned(Commentary)

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

Protein Variants

Protein Variants Comment Organism
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
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)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens P46976
-
-

Substrates and Products (Substrate)

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

Synonyms

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

General Information

General Information Comment Organism
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