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Literature summary for 2.7.2.3 extracted from

  • Spiegel, R.; Gomez, E.A.; Akman, H.O.; Krishna, S.; Horovitz, Y.; DiMauro, S.
    Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations (2009), Neuromuscul. Disord., 19, 207-211.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
T378P pathogenic mutation in patient, biochemical defect of glycolysis associated with episodic cramps and myoglobinuria triggered by strenuous exertion, chronically increased serum creatine kinase levels, and a flat venous lactate response to the forearm ischemic exercise test Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P00558
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-

Source Tissue

Source Tissue Comment Organism Textmining
erythrocyte 18-year-old man with muscle cramps and recurrent exertional myoglobinuria, without hemolytic anemia or brain dysfunction. PGK deficiency of the patient's erythrocytes, markedly decreased PGK activity Homo sapiens
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muscle 18-year-old man with muscle cramps and recurrent exertional myoglobinuria, without hemolytic anemia or brain dysfunction. PGK deficiency of the patient's muscle, PGK activity in muscle extracts in patients is less than 10% of normal Homo sapiens
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Synonyms

Synonyms Comment Organism
PGK
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Homo sapiens
phosphoglycerate kinase
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Homo sapiens