人 PKLR (NM_181871) cDNA克隆

Accession: NM_181871
基因名称: PKLR
基因别名: PK1; PKL; PKR; RPK; PKRL
基因描述: Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1632 (查看编码区序列)
翻译后氨基酸长度: 543 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a distinct and shorter N-terminus, as compared to isoform 1. Isoform 2 is also known as type L.
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G121247 人 PKLR (NM_181871) cDNA克隆 pDONR223 2ug质粒 点击询价

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]