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人MVK(NM_000431)ORF克隆
人MVK(NM_000431)ORF克隆
  • 商品货号:FO103654
  • 已售 9 件 | 评价 0 人次 | 关注度 603
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    • accession:NM_000431
    • 基因别名:MVK
    • 基因描述:Homo sapiens mevalonate kinase (MVK), transcript variant 1, mRNA.
    • 载体: 现货载体
    • CDS区长度:1191
    • 翻译后氨基酸长度:396
    • TranscriptVariant:This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    • 基因简介:This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Two transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    • 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