PKLR (pyruvate kinase, liver and RBC)

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Keyword

Gene: PKLR (pyruvate kinase, liver and RBC) Homo sapiens

Symbol:

PKLR

Name:

pyruvate kinase, liver and RBC

Description:

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]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

OTTHUMP00000034068; OTTHUMP00000034069; PK1; PKL; PKR; PKRL; pyruvate kinase 1; pyruvate kinase isozyme R/L; pyruvate kinase isozymes R/L; pyruvate kinase type L; pyruvate kinase, liver and blood cell; R-type/L-type pyruvate kinase; red cell/liver pyruvate kinase; RPK

Orthologs:

Mus musculus : Pklr (pyruvate kinase liver and red blood cell) MGI
Rattus norvegicus : Pklr (pyruvate kinase, liver and RBC)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	1	161,759,991 - 161,772,135	-	NCBI
Human Genome Assembly HuRef	1	126,621,396 - 126,633,527	-	NCBI
Human Genome Assembly GRCh37	1	155,259,084 - 155,271,225	-	NCBI
Human Genome Assembly Build 36	1	153,526,254 - 153,537,835	-	NCBI
Human Cytogenetic Map	1	q21		NCBI
Human Genome Assembly	1	152,072,702 - 152,084,298		NCBI