- accession:NM_001166687
- 基因别名:PFKM
- 基因描述:Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 2, mRNA.
- 载体: 现货载体
- CDS区长度:2343
- 翻译后氨基酸长度:780
- TranscriptVariant:This variant (2, also known as type A) 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).
- 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]
- 载体信息:自有图片地址
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列