Cloned (Comment) | Organism |
---|---|
gene GYG-1, genotyping | Homo sapiens |
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 | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
UDP-alpha-D-glucose + glycogenin | Homo sapiens | - |
UDP + alpha-D-glucosylglycogenin | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P46976 | - |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
UDP-alpha-D-glucose + glycogenin | - |
Homo sapiens | UDP + alpha-D-glucosylglycogenin | - |
? |
Synonyms | Comment | Organism |
---|---|---|
glycogenin-1 | - |
Homo sapiens |
GN-1 | UniProt | Homo sapiens |
GN1 | UniProt | Homo sapiens |
GYG1 | - |
Homo sapiens |
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 |