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人TIMM8A(NM_004085)ORF克隆
人TIMM8A(NM_004085)ORF克隆
  • 商品货号:FO104712
  • 已售 9 件 | 评价 0 人次 | 关注度 512
    • accession:NM_004085
    • 基因别名:TIMM8A
    • 基因描述:Homo sapiens translocase of inner mitochondrial membrane 8 homolog A (yeast) (TIMM8A), transcript variant 1, mRNA.
    • 载体: 现货载体
    • CDS区长度:294
    • 翻译后氨基酸长度:97
    • TranscriptVariant:This variant (1) represents the longer transcript and encodes the longer isoform (1).
    • 基因简介:This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 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