LEPRE1 Produits
(Leucine Proline-Enriched Proteoglycan (Leprecan) 1 (LEPRE1))
Catégories
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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Catégories LEPRE1 en vedette
LEPRE1 Anticorps
High quality antibodies with extensive validation data.
LEPRE1 Kits ELISA
Reliable ELISA kits for a wide range of species.
LEPRE1 Protéines
Proteins for various applications incl. WB, ELISA, IF etc.
LEPRE1 recommandé Anticorps
Produit
Reactivity
Application
Validations
N° du produit
Quantité
Fiche technique
Reactivity
Human
Application
WB, ELISA, IF, IHC (p)
Validations
- (4)
- (6)
N° du produit
ABIN566242
Quantité
100 μg
Fiche technique
Fiche technique
Reactivity
Human
Application
WB
Validations
- (9)
- (2)
N° du produit
ABIN528557
Quantité
50 μg
Fiche technique
Fiche technique
Reactivity
Human
Application
WB, FACS, IF
Validations
- (3)
N° du produit
ABIN1499128
Quantité
100 μL
Fiche technique
Fiche technique
LEPRE1 recommandé Kits ELISA
Produit
Reactivity
Analytical Method
Validations
N° du produit
Quantité
Fiche technique
Reactivity
Human
Analytical Method
Quantitative Sandwich ELISA
Validations
- (1)
N° du produit
ABIN6968262
Quantité
96 tests
Fiche technique
Fiche technique
Reactivity
Human
Analytical Method
Quantitative Sandwich ELISA
Validations
- (1)
N° du produit
ABIN6957446
Quantité
96 tests
Fiche technique
Fiche technique
Reactivity
Mouse
Analytical Method
Validations
N° du produit
ABIN1150181
Quantité
96 tests
Fiche technique
Fiche technique
LEPRE1 recommandé Protéines
Produit
Reactivity
Source
Validations
N° du produit
Quantité
Fiche technique
Reactivity
Human
Source
Wheat germ
Validations
- (1)
N° du produit
ABIN1309311
Quantité
10 μg
Fiche technique
Fiche technique
Reactivity
Human
Source
Wheat germ
Validations
- (1)
N° du produit
ABIN1309313
Quantité
10 μg
Fiche technique
Fiche technique
Reactivity
Human
Source
HEK-293 Cells
Validations
- (1)
N° du produit
ABIN2724652
Quantité
20 μg
Fiche technique
Fiche technique
Dernières publications sur nos produits LEPRE1
: "Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII." dans: 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." dans: 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." dans: 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." dans: 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." dans: Human molecular genetics, Vol. 20, Issue 8, pp. 1595-609, (2011) (PubMed).
: "Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP." dans: 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." dans: Journal of proteome research, Vol. 10, Issue 11, pp. 5175-82, (2011) (PubMed).
: "Generalized connective tissue disease in Crtap-/- mouse." dans: 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." dans: Journal of medical genetics, Vol. 46, Issue 4, pp. 233-41, (2009) (PubMed).
: "PPIB mutations cause severe osteogenesis imperfecta." dans: American journal of human genetics, Vol. 85, Issue 4, pp. 521-7, (2009) (PubMed).
Synonymes et noms alternatifs relatifs à LEPRE1
prolyl 3-hydroxylase 1 (P3H1), prolyl 3-hydroxylase 1 (P3h1), prolyl 3-hydroxylase 1 L homeolog (p3h1.L), prolyl 3-hydroxylase 1 (p3h1), 2410024C15Rik, GROS1, Gros1, LEPRE1, MGC84556, OI8, P3H1, sb:cb953Protein level used designations for LEPRE1
- growth suppressor 1
- leprecan
- leucine- and proline-enriched proteoglycan 1
- prolyl 3-hydroxylase 1
- growth supressor 1
- leprecan 1
- leprecan-1
- leprecan-1 homolog
- leucine- and proline-enriched proteoglycan 1 homolog
- leucine proline-enriched proteoglycan (leprecan) 1
- prolyl 3-hydroxylase 1-like
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