| Modification Notes |
CGI-96, also known as RRP7A (ribosomal RNA processing 7 homolog A), is a 280 amino acid protein that contains one RRM domain and is encoded by a gene which maps to human chromosome 22. 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. |