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Literature summary for 2.7.11.19 extracted from

  • Akman, H.O.; Sampayo, J.N.; Ross, F.A.; Scott, J.W.; Wilson, G.; Benson, L.; Bruno, C.; Shanske, S.; Hardie, D.G.; Dimauro, S.
    Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase (2007), Pediatr. Res., 62, 499-504.
    View publication on PubMed
Search for more literature for 2.7.11.19

Protein Variants

Protein Variants Comment Organism
R384T naturally occurring mutation Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
cytoplasm
-
 Homo sapiens 5737
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens involved in the activation of phosphorylase ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 10 week old girl with severe hypertrophy of the septal and atrial walls, progressive ventricular wall thickening, girl died at the age of 5 month from aspiration pneumonia, decreased activity of phosphorylase kinase
-

Source Tissue

Source Tissue Comment Organism Textmining
myocardium postmortem tissue, 8fold increase in glycogen concentration and no detectable phosphorylase kinase activity Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information involved in the activation of phosphorylase Homo sapiens ?
-
 ?

Subunits

Subunits Comment Organism
hexadecamer 4 * alpha + 4 * beta + 4 * gamma + 4 * delta Homo sapiens

Synonyms

Synonyms Comment Organism
EC 2.7.1.38 formerly, transferred to EC 2.7.11.19 Homo sapiens
PhK
-
 Homo sapiens
Phosphorylase b kinase
-
 Homo sapiens