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LEPRE1 encodes an enzyme that is a member of the collagen prolyl hydroxylase family. Zusätzlich bieten wir Ihnen LEPRE1 Antikörper (51) und LEPRE1 Proteine (6) und viele weitere Produktgruppen zu diesem Protein an.
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P3H1 mutation is associated with Non-Lethal Type VIII Osteogenesis Imperfecta.
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.
This is the first report of a mutation in LEPRE1 that eliminates only the KDEL ER-retrieval sequence, whereas other functional domains remain intact
0.4% of Mid-Atlantic African Americans and 1.48% West Africans carry mutation in LEPRE1 which causes lethal recessive osteogenesis imperfecta.
Mutation analyses were performed for COL1A1, COL1A2, CRTAP, and LEPRE1 in a cohort of 58 unrelated Chinese patients with osteogenesis imperfecta.
We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation
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.
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.
Findings suggest that the 3-hydroxylation function of P3H1 is restricted to the 736AA splice form.
This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined.
growth suppressor 1
, leucine- and proline-enriched proteoglycan 1
, prolyl 3-hydroxylase 1
, growth supressor 1
, leprecan 1
, leprecan-1 homolog
, leucine- and proline-enriched proteoglycan 1 homolog
, leucine proline-enriched proteoglycan (leprecan) 1
, prolyl 3-hydroxylase 1-like