Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5313
MIM: 609712
HGNC: 9020
Ensembl: ENSG00000143627
Variants:
dbSNP: 5313
ClinVar: 5313
TCGA: ENSG00000143627
COSMIC: PKLR
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000143627 | ENST00000342741 | P30613 |
| ENSG00000143627 | ENST00000392414 | P30613 |
| ENSG00000143627 | ENST00000434082 | F8W6W2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38581917 | 2024 | PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants. | 0 |
| 38581917 | 2024 | PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants. | 0 |
| 36892591 | 2023 | Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population. | 0 |
| 36963289 | 2023 | Targeting PKLR/MYCN/ROMO1 signaling suppresses neuroendocrine differentiation of castration-resistant prostate cancer. | 5 |
| 36892591 | 2023 | Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population. | 0 |
| 36963289 | 2023 | Targeting PKLR/MYCN/ROMO1 signaling suppresses neuroendocrine differentiation of castration-resistant prostate cancer. | 5 |
| 35168679 | 2022 | A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report. | 3 |
| 35271708 | 2022 | Genetic variants of PKLR are associated with acute pain in sickle cell disease. | 6 |
| 35306527 | 2022 | Pyruvate kinase L/R links metabolism dysfunction to neuroendocrine differentiation of prostate cancer by ZBTB10 deficiency. | 6 |
| 36038921 | 2022 | Haematological profile of malaria patients with G6PD and PKLR variants (erythrocytic enzymopathies): a cross-sectional study in Thailand. | 3 |
| 36586017 | 2022 | FLI1 accelerates leukemogenesis through transcriptional regulation of pyruvate kinase-L/R and other glycolytic genes. | 2 |
| 35168679 | 2022 | A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report. | 3 |
| 35271708 | 2022 | Genetic variants of PKLR are associated with acute pain in sickle cell disease. | 6 |
| 35306527 | 2022 | Pyruvate kinase L/R links metabolism dysfunction to neuroendocrine differentiation of prostate cancer by ZBTB10 deficiency. | 6 |
| 36038921 | 2022 | Haematological profile of malaria patients with G6PD and PKLR variants (erythrocytic enzymopathies): a cross-sectional study in Thailand. | 3 |
Citation
Dessen P
PKLR (pyruvate kinase L/R)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47322/pklr
