蛋白质/抗原/多肽 >> 重组蛋白
重组COBL蛋白
产品介绍 基因名: Cobl 产品别名: Cobl; cordon-bleu WH2 repeat; cordon-bleu WH2 repeat; protein cordon-bleu; COBL蛋白; 耳聋-甲状腺肿综合征相关COBL蛋白; 背景信息: 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. 标签:His-tag |
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