人 PFKM (NM_001166686) cDNA克隆

基本信息

Accession: NM_001166686
基因名称: PFKM
基因别名: GSD7; PFK1; PFKA; PFKX; PFK-1
基因描述: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.
种属: Human
CDS区长度: 2556 (查看编码区序列)
翻译后氨基酸长度: 851 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript (also known as TE-PFKM) and encodes the longer isoform (1).

订购信息

产品编号 产品名称 载体 规格 价格
G102555 人 PFKM (NM_001166686) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 PFKM (NM_001166686) cDNA克隆 transcript variant 1
人 PFKM (NM_001166687) cDNA克隆 transcript variant 2
人 PFKM (NM_001166688) cDNA克隆 transcript variant 3
人 PFKM (NM_000289) cDNA克隆 transcript variant 4

基因简介

Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]

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