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PKLR

pyruvate kinase, liver and RBC

PKLR is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene.

Gene Name: pyruvate kinase, liver and RBC
Synonyms: PKLR, PKL, Pyruvate kinase, liver and RBC, Pyruvate kinase type L, Red cell/liver pyruvate kinase, RPK, PK1, PKR, Pyruvate kinase 1, Pyruvate kinase isozymes R/L, R-type/L-type pyruvate kinase, PKRL, Pyruvate kinase isozyme R/L
Target Sequences: NM_000298 NP_000289.1 P30613

Publications (1)

1
Proteomic analyses of transgenic LQT1 and LQT2 rabbit hearts elucidate an increase in expression and activity of energy producing enzymes. Jindal HK, Merchant E, Balschi JA, Zhangand Y, Koren G. Journal of proteomics. 2012 75:5254-65. (WB; Rabbit) [PubMed:22796357]

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PLEASE NOTE

For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).