Application | Comment | Organism |
---|---|---|
medicine | PGK deficiency (D164V mutation) is a rare X-linked disease that is characterised by mild to severe haemolytic anaemia, rhabdomyolysis, and variable defects in the central nervous system, it is a recurrent mutation | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P00558 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
erythrocyte | remarkably low (less than 5% of normal) PGK enzyme activity level in patients with PGK deficiency | Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
PGK1 | - |
Homo sapiens |