Made up of nearly 146 million bases, chromosome 8 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 are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The gene encoding EF-CAB1 (EF-hand calcium-binding domain-containing peptide protein 1) is located on the long arm of chromsome 8. This 211 amino acid protein contains 3 EF-hand domains, which are helix-loop-helix structures that are usually found in calcium binding proteins. Other well-studied calcium binding proteins that contain EF-hand motifs include calmodulin (CaM), Troponin C, myosin regulatory light chain (MYL) and S-100 proteins.

广州伟伯科技有限公司