Aliases for CRTAP Gene
External Ids for CRTAP Gene
Previous GeneCards Identifiers 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 Osteogenesis Imperfecta, Type Ii. Among its related pathways are Collagen chain trimerization and Degradation of the extracellular matrix. GO annotations related to this gene include protein complex binding. An important paralog of this gene is P3H4.
UniProtKB/Swiss-Prot for CRTAP Gene
Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues.