Literature summary for 2.7.2.3 extracted from

Flanagan, J.M.; Rhodes, M.; Wilson, M.; Beutler, E.
The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA (2006), Br. J. Haematol., 134, 233-237.

Search for more literature for 2.7.2.3

Application

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

Organism	UniProt	Comment	Textmining
Homo sapiens	P00558	-	-

Source Tissue

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

Synonyms	Comment	Organism
PGK1	-	Homo sapiens

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Release 2023.1 (January 2023)