Literature summary for 2.7.1.40 extracted from

Min-Oo, G.; Tam, M.; Stevenson, M.M.; Gros, P.
Pyruvate kinase deficiency: correlation between enzyme activity, extent of hemolytic anemia and protection against malaria in independent mouse mutants (2007), Blood Cells Mol. Dis., 39, 63-69.

Search for more literature for 2.7.1.40

Application

Application	Comment	Organism
medicine	correlation betwen severity of pyruvate kinase-deficiency and extent of protection against malaria	Mus musculus

Protein Variants

Protein Variants	Comment	Organism
G338D	loss-of-function mutation in the erythrocyte-specific pyruvate kinase gene resulting in hemolytic anemia with dramatic reduction in the half-life of eryhtrocytes. Mice carrying the mutation are highly resistant to infection with Plasmodium chabaudi. Mutation G338D has more severe effects on pyruvate kinase as well as higher protection against malaria infection than less severe mutation I90N	Mus musculus
I90N	loss-of-function mutation in the reythrocyte-specific pyruvate kinase gene, protective against blood-stage malaria. Mutation G338D has more severe effects on pyruvate kinase as well as higher protection against malaria infection than less severe mutation I90N	Mus musculus

Organism

Organism	UniProt	Comment	Textmining
Mus musculus	-	erythrocyte-specific pyruvate kinase gene PKLR	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

Synonyms

Synonyms	Comment	Organism
Pklr	-	Mus musculus

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Release 2023.1 (January 2023)