| Modification Notes |
CCDC6 (coiled-coil domain containing 6), also known as H4, PTC, TPC or TST1, is a 585 amino acid cytoskeletal protein. Expressed throughout the body, CCDC6 exists in an alpha helical conformation and has a leucine zipper domain through which it can fuse to PDGFR-∫ (platelet-derived growth factor receptor beta), a protein that functions as a mitogen for mesenchyme- and glia-derived cells. Additionally, CCDC6 is a fusion partner of Ret (RET receptor tyrosine kinase), a proto-oncogene that is involved in GDNF signaling. These fusion products are not present in normal cells, but are the result of a chromosomal rearrangement in the CCDC6 gene which renders the CCDC6 protein susceptible to fusion events. When CCDC6 is fused to either PDGFR-∫ or Ret, further chromosomal rearrangements may occur that can lead to various carcinomas including human papillary thyroid carcinoma, chronic myelomonocytic leukemia and mammary and cutaneous gland tumors. |