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LEPRE1 encodes an enzyme that is a member of the collagen prolyl hydroxylase family.
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Human Polyclonal LEPRE1 Primary Antibody for WB - ABIN528557
Willaert, Malfait, Symoens, Gevaert, Kayserili, Megarbane, Mortier, Leroy, Coucke, De Paepe: Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. in Journal of medical genetics 2009
Show all 9 Pubmed References
Human Monoclonal LEPRE1 Primary Antibody for IF, IHC (p) - ABIN566242
Cabral, Chang, Barnes, Weis, Scott, Leikin, Makareeva, Kuznetsova, Rosenbaum, Tifft, Bulas, Kozma, Smith, Eyre, Marini: Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. in Nature genetics 2007
Show all 4 Pubmed References
P3H1 mutation is associated with Non-Lethal Type VIII (show COX8A Antibodies) Osteogenesis Imperfecta (show COL1A2 Antibodies).
This study enhances our knowledge about the mutational pattern of the LEPRE1, CRTAP (show CRTAP Antibodies), and PPIB (show PPIB Antibodies) 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 (show COL1A2 Antibodies).
Mutation analyses were performed for COL1A1 (show COL1A1 Antibodies), COL1A2 (show COL1A2 Antibodies), CRTAP (show CRTAP Antibodies), and LEPRE1 in a cohort of 58 unrelated Chinese patients with osteogenesis imperfecta (show COL1A2 Antibodies).
We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (show COL1A2 Antibodies) (OI) due to a novel homozygous LEPRE1 mutation
Null mutations in LEPRE1 and CRTAP (show CRTAP Antibodies) cause severe recessive osteogenesis imperfecta (show COL1A2 Antibodies).
CRTAP (show CRTAP Antibodies) and P3H1 are mutually stabilized in the collagen prolyl 3-hydroxylation complex in endoplasmic reticulum.
Screening of 78 subjects diagnosed with osteogenesis imperfecta (show COL1A2 Antibodies) type II or III, identified three probands with mutations in CRTAP (show CRTAP Antibodies) and 16 with mutations in LEPRE1.
P3H1 deficiency leads to decreased deposition of extracellular matrix by osteoblasts and increased incorporation of mineral into the matrix.
we generated knock-in mice carrying a single amino acid substitution in the catalytic site of P3h1 (Lepre1(H662A) ). This substitution abolished P3h1 activity but retained ability to form a complex with Crtap (show CRTAP Antibodies) and thus the collagen chaperone
The LEPRE1 knockout mouse is a valuable model system to investigate the mechanism of hearing loss in recessive osteogenesis imperfecta (show COL1A2 Antibodies).
Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bones
Study found that all 3 mouse Leprecan genes Lepre1, leprel1 (show LEPREL1 Antibodies) and leprel2 (show LEPREL2 Antibodies) are expressed in the notochord; additionally, they are expressed in dorsal root ganglia, limb buds, branchial arches, and developing kidneys.
This report characterizes expression of the P3H1, P3H2 (show LEPREL1 Antibodies) and P3H3 (show LEPREL2 Antibodies) genes in embryonic and adult mice.
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
, co-chaperonin GroES
, chaperonin GroS
, 10 kDa chaperonin 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