| Modification Notes |
CHCHD7 (Coiled-coil-helix-coiled-coil-helix domain-containing protein 7) is an 85 amino acid protein that contains one CHCH domain. A chromosomal translocation involving the CHCHD7 gene and PLAG1 gene is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. There are three isoforms of CHCHD7 that are produced as a result of alternative splicing events. The gene encoding CHCHD7 maps to human chromosome 8, which is made up of nearly 146 million bases and encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. |
