LEPRE1 抗体
(Leucine Proline-Enriched Proteoglycan (Leprecan) 1 (LEPRE1))
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. [provided by RefSeq, Aug 2011].
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Latest Publications for our LEPRE1 抗体
: "Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII." in: Clinica chimica acta; international journal of clinical chemistry, Vol. 464, pp. 170-175, (2016) (PubMed).: "Localization of collagen modifying enzymes on fibroblastic reticular cells and follicular dendritic cells in non-neoplastic and neoplastic lymphoid tissues." in: Leukemia & lymphoma, Vol. 57, Issue 7, pp. 1687-96, (2016) (PubMed).
: "Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta." in: PLoS genetics, Vol. 10, Issue 6, pp. e1004465, (2014) (PubMed).
: "A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta." in: PLoS ONE, Vol. 7, Issue 5, pp. e36809, (2012) (PubMed).
: "Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes." in: Human molecular genetics, Vol. 20, Issue 8, pp. 1595-609, (2011) (PubMed).
: "Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP." in: American journal of medical genetics. Part A, Vol. 155A, Issue 11, pp. 2865-70, (2011) (PubMed).
: "Proteomic dissection of the von Hippel-Lindau (VHL) interactome." in: Journal of proteome research, Vol. 10, Issue 11, pp. 5175-82, (2011) (PubMed).
: "Generalized connective tissue disease in Crtap-/- mouse." in: PLoS ONE, Vol. 5, Issue 5, pp. e10560, (2010) (PubMed).
: "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, Vol. 46, Issue 4, pp. 233-41, (2009) (PubMed).
: "PPIB mutations cause severe osteogenesis imperfecta." in: American journal of human genetics, Vol. 85, Issue 4, pp. 521-7, (2009) (PubMed).
Aliases for LEPRE1 抗体
prolyl 3-hydroxylase 1 (P3H1) 抗体prolyl 3-hydroxylase 1 (P3h1) 抗体
prolyl 3-hydroxylase 1 L homeolog (p3h1.L) 抗体
prolyl 3-hydroxylase 1 (p3h1) 抗体
2410024C15Rik 抗体
GROS1 抗体
Gros1 抗体
LEPRE1 抗体
MGC84556 抗体
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P3H1 抗体
sb:cb953 抗体
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