CGI-43 Polyclonal Antibody

CCZ1, also known as CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae), CCZ1A, CCZ1B or CGI-43, is a 482 amino acid protein that localizes to the lysosomal membrane and belongs to the CCZ1 family. CCZ1 is encoded by a gene that maps to human chromosome 7, which houses over 1000 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. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia.

CCZ1; C7orf28A; CGI-43; Vacuolar fusion protein CCZ1 homolog; CCZ1B; C7orf28B; Vacuolar fusion protein CCZ1 homolog B; Vacuolar fusion protein CCZ1 homolog-like