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人PHKB(NM_001031835)ORF克隆
人PHKB(NM_001031835)ORF克隆
  • 商品货号:FO116151
  • 已售 1 件 | 评价 0 人次 | 关注度 408
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    • accession:NM_001031835
    • 基因别名:PHKB
    • 基因描述:Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 2, mRNA.
    • 载体: 现货载体
    • CDS区长度:3261
    • 翻译后氨基酸长度:1086
    • TranscriptVariant:This variant (2) has an additional exon in the 5' region and an alternate exon in the 3' region, as compared to variant 1. The resulting isoform (b) is shorter and has an alternate N-terminus and a different segment in the C-terminal region, as compared to isoform a.
    • 基因简介:Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
    • 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