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人ACE2(NM_021804)ORF克隆 CALU-3细胞 vero E6非洲绿猴肾细胞
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人 SACS (NM_014363) cDNA克隆
人 SACS (NM_014363) cDNA克隆
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    • accession：NM_014363
    • 基因别名：SACS
    • 基因描述：Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), transcript variant 1, mRNA.
    • 载体：现货载体
    • CDS区长度：13740
    • 翻译后氨基酸长度：4579
    • TranscriptVariant：This variant (1) represents the longer transcript and encodes the longer isoform (1).
    • 基因简介：This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
    • 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
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