Application:IF,ICC/IF
Reactivity: (predicted: Human,Mouse,Rat,Dog,Horse)
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.