Anti-CRTAP

The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. Protein function: Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues. [The UniProt Consortium]