人 PFKM (NM_000289) cDNA克隆

基本信息

Accession: NM_000289
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 4, mRNA.
种属: Human
CDS区长度: 2343 (查看编码区序列)
翻译后氨基酸长度: 780 (查看氨基酸序列)
Transcript Variant: This variant (4, also known as type C) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2, 3 and 4 encode the same isoform (2).

订购信息

产品编号 产品名称 载体 规格 价格
G102552 人 PFKM (NM_000289) 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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