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BRENDA support

Literature summary for 2.7.2.3 extracted from

  • Beutler, E.
    PGK deficiency (2007), Br. J. Haematol., 136, 3-11.
    View publication on PubMed

Application

Application Comment Organism
medicine the gene encoding the erythrocyte enzyme PGK1, is X-linked. Mutations of this gene may cause chronic haemolysis with or without mental retardation and they may cause myopathies, often with episodes of myoglobinuria, or a combination of these clinical manifestations Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
erythrocyte
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
PGK
-
Homo sapiens