CC117_HUMAN, Ccdc117, Coiled-coil domain-containing protein 117.
CCDC117 is a 279 amino acid protein that is expressed as multiple alternatively spliced isoforms and is encoded by a gene which maps to human chromosome 22. Chromosome 22 houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia. Additionally, translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia chromosome and the subsequent production of the novel fusion protein Bcr-Abl, a potent cell proliferation activator found in several types of leukemias.
