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Literature summary for 2.4.1.186 extracted from

  • Krag, T.O.; Ruiz-Ruiz, C.; Vissing, J.
    Glycogen synthesis in glycogenin 1-deficient patients a role for glycogenin 2 in muscle (2017), J. Clin. Endocrinol. Metab., 102, 2690-2700 .
    View publication on PubMed
Search for more literature for 2.4.1.186

Cloned(Commentary)

Cloned (Comment) Organism
gene GYG1, genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
D163T naturally occuring mutation c.487del (p.Asp163Thrfs*5) in GYG1 causing glycogen storage disease (GSD) type XV, phenotype, overview Homo sapiens
D56H/D160T naturally occuring mutations c.166G.C (p.Asp56His)/c.472Del (p.Asp160Thr fs*5) in GYG1 causing glycogen storage disease (GSD) type XV, phenotype, overview Homo sapiens
additional information expression analysis of GYG2 in wild-type and GYG1-deficient mutant muscle tissue samples, no expression of GYG2 in wild-type skeletal muscle, but glycogenin 2 is detected in the patients, much stronger in the more affected patient 2 than in patient 1 Homo sapiens
additional information two patients with mutations in the GYG1 gene are investigated for histopathology, ultrastructure, and expression of proteins involved in glycogen synthesis and metabolism, phenotypes, 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
-
-
-
Homo sapiens O15488
-
-

Source Tissue

Source Tissue Comment Organism Textmining
heart
-
 Homo sapiens
-
liver
-
 Homo sapiens
-
additional information expression analysis of GYG2 in wild-type and GYG1-deficient mutant muscle tissue samples, no expression of GYG2 in wild-type skeletal muscle, but glycogenin 2 is detected in the patients, much stronger in the more affected patient 2 than in patient 1 Homo sapiens
-
skeletal muscle determination of the level of glycogenin 1 in wild-type and mutant muscle tissue samples Homo sapiens
-

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
glycogenin 2
-
 Homo sapiens
GYG1
-
 Homo sapiens
GYG2
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction glycogen storage disease (GSD) type XV is a rare disease caused by mutations in the GYG1 gene that codes for the core molecule of muscle glycogen, glycogenin 1. Nonetheless, glycogen is present in muscles of glycogenin 1-deficient patients due to activity of glycogenin 2. Apart from occurrence of polyglucosan (PG) bodies in few fibers, glycogen appears normal in most cells, and the concentration is normal in patients with GSD type XV. Analysis of formation of glycogen and changes in glycogen metabolism in patients with GSD type XV, overview Homo sapiens
physiological function enzyme glycogenin 2 compensates for glycogenin 1 in human skeletal muscles of GYG1-deficient mutants. No expression of GYG2 occurs in wild-type skeletal muscle, but glycogenin 2 is detected in the patients, much stronger in the more affected patient 2 than in patient 1 Homo sapiens
physiological function glycogenin 1 protein forms the core of glycogen in skeletal and cardiac muscle Homo sapiens