Species Human Entrez 10491 | Human Mouse Ensembl ENSG00000170275 | |
Aliases CRTAP, CASP, LEPREL3, OI7, P3H5, cartilage associated protein External IDs OMIM: 605497 MGI: 1891221 HomoloGene: 21280 GeneCards: CRTAP | ||
Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene.
Contents
Function
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.
Clinical significance
Mutations in the CRTAP gene are associated with osteogenesis imperfecta, types VII and IIB, a connective tissue disorder characterized by bone fragility and low bone mass.
References
Cartilage associated protein Wikipedia(Text) CC BY-SA