CCDC80

CCDC80, also known as Coiled-Coil Domain Containing 80, is a human gene encoding a protein of the same name. The protein is thought to play a role in chondrogenesis, the process by which cartilage is formed. It has been implicated in both normal skeletal development and in certain diseases affecting cartilage and bone.

The CCDC80 protein is a secreted glycoprotein characterized by the presence of a coiled-coil domain, a structural motif commonly involved in protein-protein interactions. While the precise function of CCDC80 is not fully elucidated, research suggests it influences the Wnt signaling pathway, a crucial regulator of cell growth, differentiation, and tissue development.

Variants in the CCDC80 gene have been associated with variations in human height and an increased risk of osteoarthritis, a degenerative joint disease characterized by cartilage breakdown. Genetic studies have identified single nucleotide polymorphisms (SNPs) within the CCDC80 gene that correlate with these phenotypes. Further research is ongoing to fully understand the mechanisms by which CCDC80 influences these conditions and to explore its potential as a therapeutic target.