| Modification Notes |
RTDR1 (Rhabdoid tumor deletion region protein 1) is a 348 amino acid protein that is expressed in adult spinal cord, skeletal muscle, cerebellum and spleen, as well in some rhabdoid tumors. The gene encoding RTDR1 maps to human chromosome 22, which contains over 500 genes and about 49 million bases. Being the second smallest human chromosome, 22 contains a surprising variety of interesting genes. Phelan-McDermid syndrome, neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. 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 leukemia. |
