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The protein encoded by CRTAP is similar to the chicken and mouse CRTAP genes. Additionally we are shipping CRTAP Antibodies (68) and CRTAP Kits (14) and many more products for this protein.
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This study enhances our knowledge about the mutational pattern of the LEPRE1 (show LEPRE1 Proteins), CRTAP, and PPIB (show PPIB Proteins) genes. LEPRE1 (show LEPRE1 Proteins) should be the first gene analyzed in mutation detection studies in patients with recessive OI.
An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro.
SNP rs7623768 and the haplotype G-C of rs4076086-rs7623768 in CRTAP were associated with femoral neck bone mineral density (p = 0.009 and p = 0.003, respectively).
Importantly, human mutations in the CRTAP gene have been associated with recessive forms of OI.
CRTAP deficiency results in higher bone mineral content of the bone matrix in osteogenesis imperfecta type VII.
Null mutations in LEPRE1 (show LEPRE1 Proteins) and CRTAP cause severe recessive osteogenesis imperfecta (show COL1A2 Proteins).
CRTAP and P3H1 (show LEPRE1 Proteins) are mutually stabilized in the collagen prolyl 3-hydroxylation complex in endoplasmic reticulum.
CRTAP mutations not described earlier were identified in 10 individuals who had a clinical diagnosis of lethal and severe osteogenesis imperfecta (show COL1A2 Proteins).
complexes with prolyl 3-hydroxylase 1 (P3H1) to decrease prolyl 3 hydroxylation; dysregulation (show COL1A2 Proteins) of prolyl 3 hydroxylation is a (show TH Proteins) mechanism for connective tissue disease
Screening of 78 subjects diagnosed with osteogenesis imperfecta (show COL1A2 Proteins) type II or III, identified three probands with mutations in CRTAP and 16 with mutations in LEPRE1 (show LEPRE1 Proteins).
This substitution abolished P3h1 (show LEPRE1 Proteins) activity but retained ability to form a complex with Crtap and thus the collagen chaperone function.
In Crtap-deficient mice, the mineral content of the bone matrix is abnormally high; there are increased mineral densities at all measured sites for murine femora compared to control animals.
CRTAP mutations are associated with the clinical spectrum of recessive osteogenesis imperfecta (show COL1A2 Proteins), including the type II and VII (show TH Proteins) forms
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.
, cartilage associated protein
, leprecan-like 3