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The protein encoded by CRTAP is similar to the chicken and mouse CRTAP genes. De plus, nous expédions CRTAP Anticorps (69) et CRTAP Protéines (11) et beaucoup plus de produits pour cette protéine.
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To the best of our knowledge, our study is the first to exclude potential correlations between heterozygous variants in CRTAP and milder skeletal impairments in a large number of patients
This study enhances our knowledge about the mutational pattern of the LEPRE1, CRTAP, and PPIB genes. LEPRE1 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 and CRTAP cause severe recessive osteogenesis imperfecta.
CRTAP and P3H1 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.
complexes with prolyl 3-hydroxylase 1 (P3H1) to decrease prolyl 3 hydroxylation; dysregulation of prolyl 3 hydroxylation is a mechanism for connective tissue disease
Screening of 78 subjects diagnosed with osteogenesis imperfecta type II or III, identified three probands with mutations in CRTAP and 16 with mutations in LEPRE1.
Mutations in CRTAP and LEPRE1 are found in 3 patients with type II osteogenesis imperfecta.
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