LP62085-3

PKLR gene

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Description

The PKLR gene (pyruvate kinase, liver and RBC) [HGNC Gene ID:9020] is located on chromosome 1q21. 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] [NCBI Gene ID:5313] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type	Source	Reference
Webcontent	Online Mendelian Inheritance in Man^®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.	Link to OMIM

Basic Part Properties

Part Name: PKLR gene
Part Display Name: PKLR gene
Part Type: Component (Describes the core component or analyte measured)
Created On: 2007-01-04
Construct for LOINC Short Name: PKLR gene

Related Codes

Code System	Code	Code Text	Code Version
HUGO Gene Nomenclature Committee (HGNC)	HGNC:9020	PKLR
National Center for Biotech Info (NCBI) Gene (National Center for Biotechnology Information (NCBI) Gene)	5313	PKLR

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Language Variants Get Info

Tag	Language	Translation
zh-CN	Chinese (China)	PKLR 基因 Synonyms: PK1;PKL;Pyruvate kinase 1 gene;Pyruvate kinase isozymes R/L gene;Pyruvate kinase, liver and RBC gene;RBC/肝丙酮酸激酶基因;RBC/肝脏丙酮酸激酶基因;Red cell/liver pyruvate kinase gene;RPK;R-type/L-type pyruvate kinase gene;R-型/L-型丙酮酸激酶基因;丙酮酸激酶 1 基因;丙酮酸激酶同工酶 R/L 基因;丙酮酸激酶, 肝与
et-EE	Estonian (Estonia)	PKLR geen
es-ES	Spanish (Spain)	Gen PKLR
it-IT	Italian (Italy)	PKLR, gene Synonyms: GenePKLR
tr-TR	Turkish (Turkey)	PKLR geni
ru-RU	Russian (Russian Federation)	PKLR ген
nl-NL	Dutch (Netherlands)	PKLR-gen Synonyms: PKLR gen
fr-FR	French (France)	PKLR gène
pl-PL	Polish (Poland)	PKLR gen Synonyms: Gen PKLR
el-GR	Greek (Greece)	Γονίδιο PKLR Synonyms: Γονίδιο PKLR

LOINC Copyright

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