PKLR
Sign in to saveAlso known as PK1, PKL, PKR, PKRL, RPK, pyruvate kinase, liver and RBC, pyruvate kinase L/R
protein-coding gene in the species Homo sapiens
Gene data
PKLR- Name
- pyruvate kinase L/R
- Type
- protein-coding
- Aliases
- CNSHA2, PK1, PKL, PKRL, RPK
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].
via MyGene.info
Gene · Ensembl
pyruvate kinase L/R
- Symbol
- PKLR
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:155,289,265-155,301,443
- Strand
- Reverse (−)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein PKLR PDB 1liu.png
Show 5 more facts
- HomoloGene ID
- 37286
- exact match
- identifiers.org/ncbigene/5313
- cytogenetic location
- 1q22
- genomic start
- 155289293
- genomic end
- 155301438
Sources (6)
via Wikidata · CC0
Connections
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