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C12ORF2412号染色体开放阅读框24抗体
点击次数:256发布时间:2012/12/3 22:19:51
更新日期:2024/9/5 14:43:01
所 在 地:中国大陆
产品型号:BY-9945R
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详细内容
货号:BY-9945R
英文名称:Anti-C12ORF24
中文名称:12号染色体开放阅读框24抗体
其他名称:Chromosome 12 open reading frame 24;HSU79274;Hypothetical protein LOC29902;Protein predicted by clone 23733.
抗体来源:Rabbit
克隆类型:polyclonal
蛋白分子量:predicted molecular weight: 31kDa
纯化方法:affinity purified by Protein A
交叉反应:hu
产品介绍:Encoding over 1,100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The C12orf24 gene product has been provisionally designated C12orf24 pending further characterization.