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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P00558 | - |
- |
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 | - |
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 | - |
Synonyms | Comment | Organism |
---|---|---|
PGK | - |
Homo sapiens |
phosphoglycerate kinase | - |
Homo sapiens |