Coiled-coil domain containing 54, FLJ25362, NYD-SP17, Testes development-related NYD-SP17, Testis development protein NYD-SP17.
The specific function of CCDC54 (coiled-coil domain containing 54) is not yet known. The CCDC54 gene appears to be conserved in chimpanzee, dog, mouse, and rat.CCDC54, also known as coiled-coil domain-containing protein 54 or testis development protein NYD-SP17, is a 328 amino acid protein that is phosphorylated on threonine 182 during post-translational modification. The gene encoding NYD-SP17 maps to human chromosome 3q13.12 and mouse chromosome 16 B5. Human chromosome 3 houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Key tumor suppressing genes on chromosome 3 include those that encode the apoptosis mediator RASSF1, the cell migration regulator HYAL1 and the angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth disease are a few of the numerous genetic diseases associated with chromosome 3.
