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Anti-COBL/Cordon bleu homolog耳聋-甲状腺肿综合征相关COBL蛋白抗体
点击次数:271发布时间:2012/12/26 7:24:00
更新日期:2024/9/5 14:43:27
所 在 地:其它
产品型号:BY-8247R
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货号:BY-8247R
英文名称:Anti-COBL/Cordon bleu homolog
中文名称:耳聋-甲状腺肿综合征相关COBL蛋白抗体
其他名称:cobL;COBL_HUMAN;DKFZp686G13227;KIAA0633;MGC131893;Protein cordon-bleu.
抗体来源:Rabbit
克隆类型:polyclonal
蛋白分子量:predicted molecular weight: 136kDa
纯化方法:affinity purified by Protein A
交叉反应:hu, mo
产品介绍:Cordon-bleu, also known as COBL, is a 1,261 amino acid protein that localizes to the node of the axial midline, a structure that organizes morphogenesis of the vertebrate embryo. Widely conserved and existing as five alternatively spliced isoforms, Cordon-bleu interacts with Vangl2 to mediate closure of the midbrain neural tube and is highly expressed in pancreas, ovary, brain, liver, lung and kidney. Cordon-bleu contains three WH2 domains and is encoded by a gene that maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance.