Gene: CRTAP
Alternate names for this Gene: CASP|LEPREL3|OI7|P3H5
Gene 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.
Gene is located in Chromosome: 3
Location in Chromosome : 3p22.3
Description of this Gene: cartilage associated protein
Type of Gene: protein-coding
rs4478037 in
CRTAP gene and
Major Depressive Disorder
PMID 29317602 2018 Genome-wide meta-analyses of stratified depression in Generation Scotland and UK Biobank.
rs137853938 in
CRTAP gene and
Osteogenesis Imperfecta Type VII
PMID 19550437 2009 CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
PMID 21955071 2012 Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.
PMID 17055431 2006 CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
PMID 18566967 2008 CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
PMID 18996919 2009 Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.