Aliases for CRTAP Gene
External Ids for CRTAP Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for CRTAP Gene
CRTAP (Cartilage Associated Protein) is a Protein Coding gene. Diseases associated with CRTAP include osteogenesis imperfecta, type vii and crtap-related osteogenesis imperfecta. Among its related pathways are Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. An important paralog of this gene is P3H4.
UniProtKB/Swiss-Prot for CRTAP Gene
Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues.