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Gene

PKLR

pyruvate kinase L/R

Summary

Cytogenetic location
1q22
Coordinates
Chromosome 1: 155,289,293–155,301,438 (GRCh38)
Exons
11 exons across 12.1 kb
Protein
574 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000342741.6NM_000298.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Pyruvate Kinase Deficiency and Other Red Cell Enzyme Disorders

    • Pyruvate Kinase DeficiencyAutosomal recessive

      A recessive condition caused by changes in PKLR, ranging from mild anaemia to severe anaemia needing regular transfusions, often with jaundice, gallstones and iron overload.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Mitapivat, an oral medicine that activates pyruvate kinase, is approved for adults, and a diagnosis guides decisions on iron monitoring and spleen removal.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PKLR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where PKLR sits. PKLR and 37 genes near it on chromosome 1, from 154,795,366 to 155,795,365.Chromosome 11q22p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44154.8 Mb155 Mb155.2 Mb155.4 Mb155.6 MbKCNN3: 154,697,455–154,870,340, reverse strandKCNN3PMVK: 154,924,732–154,937,008, reverse strandPMVKPBXIP1: 154,944,059–154,956,451, reverse strandPYGO2: 154,957,025–154,963,853, reverse strandSHC1: 154,962,284–154,974,452, reverse strandSHC1CKS1B: 154,974,641–154,979,256, forward strandCKS1BFLAD1: 154,983,311–154,993,111, forward strandFLAD1LENEP: 154,993,586–154,994,315, forward strandLENEPZBTB7B: 155,002,543–155,018,525, forward strandDCST2: 155,018,520–155,033,781, reverse strandDCST1: 155,033,824–155,050,930, forward strandADAM15: 155,050,566–155,062,780, forward strandADAM15EFNA4: 155,063,718–155,069,553, forward strandEFNA4EFNA4-EFNA3: 155,063,748–155,086,807, forward strandEFNA4-EFNA3EFNA3: 155,078,823–155,087,538, forward strandEFNA3EFNA1: 155,127,452–155,134,899, forward strandEFNA1SLC50A1: 155,135,344–155,138,857, forward strandDPM3: 155,138,457–155,140,595, reverse strandDPM3KRTCAP2: 155,169,182–155,173,475, reverse strand: 155,169,409–155,187,272, reverse strandTRIM46: 155,173,787–155,184,971, forward strandTRIM46MUC1: 155,185,824–155,192,916, reverse strandMUC1THBS3: 155,195,584–155,209,203, reverse strandTHBS3MTX1: 155,208,695–155,213,824, forward strandMTX1GBA1: 155,231,270–155,245,178, reverse strandGBA1ENTREP3: 155,247,205–155,255,824, reverse strandSCAMP3: 155,255,979–155,262,433, reverse strandSCAMP3CLK2: 155,262,747–155,278,491, reverse strandCLK2HCN3: 155,277,328–155,289,848, forward strandHCN3PKLR: 155,289,293–155,301,438, reverse strandPKLRFDPS: 155,304,786–155,320,666, forward strandFDPSRUSC1: 155,320,739–155,331,422, forward strandRUSC1ASH1L: 155,335,268–155,563,162, reverse strandASH1LMSTO1: 155,563,235–155,616,644, forward strandMSTO1: 155,626,755–155,648,640, reverse strandYY1AP1: 155,659,446–155,689,334, reverse strandYY1AP1DAP3: 155,687,833–155,740,132, forward strandDAP3GON4L: 155,749,659–155,859,439, reverse strandGON4LDiagram of PKLR: 11 exons on the reverse strand of chromosome 1Exon 11: 1 known disease-causing siteExon 10: 12 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 6: 10 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 11: 155,289,293–155,290,678, 1,386 basesExon 10: 155,291,756–155,291,937, 182 basesExon 9: 155,293,177–155,293,343, 167 basesExon 8: 155,293,438–155,293,590, 153 basesExon 7: 155,294,235–155,294,385, 151 basesExon 6: 155,294,482–155,294,752, 271 basesExon 5: 155,295,116–155,295,302, 187 basesExon 4: 155,295,437–155,295,568, 132 basesExon 3: 155,295,665–155,295,756, 92 basesExon 2: 155,300,098–155,300,280, 183 basesExon 1: 155,301,296–155,301,438, 143 bases11109876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3 kb of the gene's 12.1 kb; 1,725 of those bases code for the protein.

How a genome test reads PKLR

51

positions in PKLR where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 12.1 kb of PKLR, introns included, not only the 3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PKLR gene: pyruvate kinase L/R. Retrieved 17 October 2026, from https://dantelabs.com/genes/pklr

Vancouver

Dante Labs. PKLR gene: pyruvate kinase L/R [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pklr

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