Species Human Entrez 5313 | Human Mouse Ensembl n/a | |
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Aliases PKLR, PK1, PKL, PKR, PKRL, RPK, pyruvate kinase, liver and RBC External IDs MGI: 97604 HomoloGene: 37286 GeneCards: PKLR | ||
Pyruvate kinase isozymes R/L is an enzyme that in humans is encoded by the PKLR gene.
The protein encoded by this gene is a pyruvate kinase that catalyzes the production of phosphoenolpyruvate from pyruvate and ATP. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Alternatively spliced transcript variants encoding distinct isoforms have been described.
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.
References
PKLR Wikipedia(Text) CC BY-SA