HTX6, CCDC11, Coiled-coil domain-containing protein 11
CCDC11 is a 514 amino acid protein encode by a gene that maps to human chromosome 18q21.1. Encoding over 300 genes, chromosome 18 contains about 76 million bases. Trisomy 18, or Edwards syndrome, is the second most common trisomy after Downs syndrome. Symptoms of Edwards syndrome include low birth weight, a variety of physical development defects, heart deformations and breathing difficulty. Translocation between chromosome 18 and 14 is the most common translocation in cancers, and occurs in follicular lymphomas. Niemann-Pick disease, hereditary hemorrhagic telangiectasia and erythropoietic protoporphyria are associated with chromosome 18. The TGF modulators, Smad2, Smad4 and Smad7 are encoded by chromosome 18.
