CRTAP, Official Symbol CRTAPprovided by HGNC Official Full Name cartilage associated proteinprovided by HGNC Primary source HGNC:HGNC:2379 See related Ensembl:ENSG00000170275 MIM:605497; AllianceGenome:HGNC:2379 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OI7; CASP; P3H5; LEPREL3 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] Expression Ubiquitous expression in fat (RPKM 41.9), ovary (RPKM 29.9) and 24 other tissues See more Orthologs mouse all