PKLR Chromosome 1
Pyruvate kinase L/R
Upload your DNA to see your personal genotypes for variants in PKLR.
What This Gene Does
The protein encoded by this gene 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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Pyruvate kinase family
Locus Type
gene with protein product
Location
1q22
Ensembl
ENSG00000143627
Associated Conditions (6)
PKLR-related disorder
Pyruvate kinase deficiency of red cells
Pyruvate kinase hyperactivity
Inborn genetic diseases
Congenital anemia
See cases
Key Variants
RS1052176
Conflicting classifications of pathogenicity
PKLR-related disorder, PKLR-related disorder
Health Risk
RS1358047518
Conflicting classifications of pathogenicity
Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
Health Risk
RS138871700
Conflicting classifications of pathogenicity
Health Risk
RS139002629
Conflicting classifications of pathogenicity
Health Risk
RS139697646
Conflicting classifications of pathogenicity
Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
Health Risk
RS1403323591
Conflicting classifications of pathogenicity
PKLR-related disorder, PKLR-related disorder
Health Risk
RS141341788
Conflicting classifications of pathogenicity
Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
Health Risk
RS145132664
Conflicting classifications of pathogenicity
Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
Health Risk
RS146708702
Conflicting classifications of pathogenicity
Pyruvate kinase deficiency of red cells, PKLR-related disorder, Pyruvate kinase deficiency of red cells
Health Risk
RS147659527
Conflicting classifications of pathogenicity
Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
Health Risk
RS149946271
Conflicting classifications of pathogenicity
Pyruvate kinase deficiency of red cells, Pyruvate kinase hyperactivity, Pyruvate kinase deficiency of red cells
Health Risk
RS150077703
Conflicting classifications of pathogenicity
Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
Health Risk
All Variants (120)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS185753709 | Health Risk | Likely pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS192191038 | Health Risk | Likely pathogenic | — |
| RS2148204773 | Health Risk | Likely pathogenic | — |
| RS2148204914 | Health Risk | Likely pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS2148218886 | Health Risk | Likely pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS2525270500 | Health Risk | Likely pathogenic | — |
| RS2525277601 | Health Risk | Likely pathogenic | — |
| RS2525277846 | Health Risk | Likely pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS2525287169 | Health Risk | Likely pathogenic | — |
| RS2525298657 | Health Risk | Likely pathogenic | — |
| RS2525298832 | Health Risk | Likely pathogenic | — |
| RS2525303590 | Health Risk | Likely pathogenic | — |
| RS2525345893 | Health Risk | Likely pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS532230312 | Health Risk | Likely pathogenic | — |
| RS551883218 | Health Risk | Likely pathogenic | — |
| RS747097960 | Health Risk | Likely pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS747549978 | Health Risk | Likely pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS752423472 | Health Risk | Likely pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS758278200 | Health Risk | Likely pathogenic | — |
| RS772473652 | Health Risk | Likely pathogenic | PKLR-related disorder, PKLR-related disorder |
| RS777806779 | Health Risk | Likely pathogenic | — |
| RS908690172 | Health Risk | Likely pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS113403872 | Health Risk | Pathogenic | Pyruvate kinase deficiency of red cells, PKLR-related disorder, Congenital anemia |
| RS118204084 | Health Risk | Pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS118204085 | Health Risk | Pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS118204089 | Health Risk | Pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS1193689718 | Health Risk | Pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS1195760289 | Health Risk | Pathogenic | — |
| RS1331742633 | Health Risk | Pathogenic | — |
| RS141560532 | Health Risk | Pathogenic | — |
| RS1434008042 | Health Risk | Pathogenic | — |
| RS1448381947 | Health Risk | Pathogenic | — |
| RS1557959906 | Health Risk | Pathogenic | — |
| RS1572057140 | Health Risk | Pathogenic | — |
| RS201255024 | Health Risk | Pathogenic | Pyruvate kinase deficiency of red cells, PKLR-related disorder, Pyruvate kinase deficiency of red cells |
| RS201953584 | Health Risk | Pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase hyperactivity, Pyruvate kinase deficiency of red cells |
| RS2148208099 | Health Risk | Pathogenic | — |
| RS2148221101 | Health Risk | Pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS2525269876 | Health Risk | Pathogenic | — |
| RS2525279507 | Health Risk | Pathogenic | — |
| RS2525289192 | Health Risk | Pathogenic | — |
| RS2525292929 | Health Risk | Pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS749303140 | Health Risk | Pathogenic | — |
| RS754939638 | Health Risk | Pathogenic | Pyruvate kinase deficiency of red cells, PKLR-related disorder, Pyruvate kinase deficiency of red cells |
| RS764143249 | Health Risk | Pathogenic | — |
| RS771142025 | Health Risk | Pathogenic | — |
| RS771145576 | Health Risk | Pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS772567442 | Health Risk | Pathogenic | — |
| RS772860949 | Health Risk | Pathogenic | Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells |
| RS773626254 | Health Risk | Pathogenic | Congenital anemia, Congenital anemia |