P86790

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 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.