Pyruvate Kinase, Liver and Red Blood Cell

Alternative Names

  • PKLR
  • PKRL
  • Pyruvate Kinase, Liver Type
  • PKL
  • Pyruvate Kinase, Red Cell Type
  • PKR
  • Pyruvate Kinase 1
  • PK1
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OMIM Number

609712

NCBI Gene ID

9020

Uniprot ID

P30613

Length

19,417 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Pyruvate kinase PKLR

Molecular Mass

61830 Da

Amino Acid Count

574

Genomic Location

chr1:155,289,293-155,308,709

Gene Map Locus
1q22

Description

The PKLR gene codes for pyruvate kinase, a key rate controlling glycolytic enzyme that catalyzes the conversion of phosphoenolpyruvate (PEP) to pyruvate. 

The two isoforms of the PKLR protein are coded for by the same gene, but by using different promoters. Therefore, the R-isozyme has an additional 33 amino acids. The remaining 541 amino acids are the same in both the forms.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000298.5:c.1151C>TLebanonNC_000001.11:g.155293556G>APathogenicPathogenicPyruvate Kinase Deficiency of Red CellsNG_011677.1:g.12879C>T; NM_000298.5:c.1151C>T ; NP_000289.1:p.Thr384Met743153621507
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