PKLR - Pyruvate kinase PKLR - human protein (Medical)
 
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PKLR »  Pyruvate kinase PKLR   [ EC 2.7.1.40 ]
 
Protein also known as:  Red cell/liver pyruvate kinase.
Gene name:  PKLR
Family name: Pyruvate kinase
Entry whose protein(s) existence is based on evidence at protein level
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1 76 2
GENE REF ISO

Displayed isoform: R-type     

 
 

Medical

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Disease 
Pyruvate kinase hyperactivity (PKHYP) [MIM:102900]: Autosomal dominant phenotype characterized by increase of red blood cell ATP. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]: A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Hemolytic anemia due to red cell pyruvate kinase deficiency  766  
Pharmaceutical 
According to DrugBank, this protein binds/interacts with the following drug:
Pyruvic acid  DB00119  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Hereditary hemolytic anemia  definition   [KW-0360]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

CTD: 5313
MIM: 266200
MIM: 102900
PharmGKB: PA33352
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.