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PKLR - pyruvate kinase L/R

Synonym(s) :
Previous symbols and names : pyruvate kinase, liver and RBC
Type : gene with protein product
Chromosomal location : 1q22
OMIM: 609712
HGNC: 9020
UniProtKB: P30613
Genatlas: PKLR
Ensembl: ENSG00000143627
IUPHAR-DB: -
Reactome: P30613
LOVD: PKLR

Diseases list

Disease-causing germline mutation(s) in Hemolytic anemia due to red cell pyruvate kinase deficiency ORPHA:766

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Patient-centred resources for this gene

Diagnostic tests (65)

Research activities on this gene

Specialised Social Services

Eurordis directory

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