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.
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Protein Aliases: Cartilage-associated protein; leprecan-like 3; prolyl 3-hydroxylase family member 5 (non-enzymatic)
Gene Aliases: CASP; CRTAP; LEPREL3; OI7; P3H5
UniProt ID: (Human) O75718
Entrez Gene ID: (Human) 10491
Molecular Function: extracellular matrix protein