Gene Symbol | CRTAP |
Entrez Gene ID | 10491 |
Full Name | cartilage associated protein |
Synonyms | CASP,LEPREL3,OI7,P3H5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Osteogenesis imperfecta, type VII, 610682 (3) |