LEPRE1 purified MaxPab mouse polyclonal antibody (B01P)
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Specification
Product Description
Mouse polyclonal antibody raised against a full-length human LEPRE1 protein.
Immunogen
LEPRE1 (AAH15309, 1 a.a. ~ 390 a.a) full-length human protein.
Sequence
MLGEEHTRSIGPRESAKEYRQRSLLEKELLFFAYDVFGIPFVDPDSWTPEEVIPKRLQEKQKSERETAVRISQEIGNLMKEIETLVEEKTKESLDVSRLTREGGPLLYEGISLTMNSKLLNGSQRVVMDGVISDHECQELQRLTNVAATSGDGYRGQTSPHTPNEKFYGVTVFKALKLGQEGKVPLQSAHLYYNVTEKVRRIMESYFRLDTPLYFSYSHLVCRTAIEEVQAERKDDSHPVHVDNCILNAETLVCVKEPPAYTFRDYSAILYLNGDFDGGNFYFTELDAKTVTAEVQPQCGRAVGFSSGTENPHGVKAVTRGQRCAIALWFTLDPRHSERDRVQADDLVKMLFSPEEMDLSQEQPLDAQQGPPEPAQESLSGSESKPKDEL
Host
Mouse
Reactivity
Human
Interspecies Antigen Sequence
Mouse (91); Rat (92)
Quality Control Testing
Antibody reactive against mammalian transfected lysate.
Storage Buffer
In 1x PBS, pH 7.4
Storage Instruction
Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.
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Applications
Western Blot (Tissue lysate)
LEPRE1 MaxPab polyclonal antibody. Western Blot analysis of LEPRE1 expression in human placenta.Western Blot (Transfected lysate)
Western Blot analysis of LEPRE1 expression in transfected 293T cell line (H00064175-T01) by LEPRE1 MaxPab polyclonal antibody.
Lane 1: LEPRE1 transfected lysate(42.9 KDa).
Lane 2: Non-transfected lysate.
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Gene Info — LEPRE1
Entrez GeneID
64175GeneBank Accession#
BC015309.1Protein Accession#
AAH15309Gene Name
LEPRE1
Gene Alias
GROS1, MGC117314, P3H1
Gene Description
leucine proline-enriched proteoglycan (leprecan) 1
Gene Ontology
HyperlinkGene Summary
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. Two 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
Other Designations
OTTHUMP00000008736|growth suppressor 1|leprecan|leprecan 1|prolyl 3-hydroxylase 1
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Interactome
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Publication Reference
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Targeted exome sequencing identifies novel compound heterozygous mutations in LEPRE1 in a fetus with osteogenesis imperfecta type VIII.
Huang Y, Mei L, Lv W, Li H, Zhang R, Pan Q, Tan H, Guo J, Luo X, Chen C, Liang D, Wu L.
Clinica Chimica Acta 2016 Nov; 464:170.
Application:WB, Human, PBMCs.
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Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.
Cabral WA, Perdivara I, Weis M, Terajima M, Blissett AR, Chang W, Perosky JE, Makareeva EN, Mertz EL, Leikin S, Tomer KB, Kozloff KM, Eyre DR, Yamauchi M, Marini JC.
PLoS Genetics 2014 Jun; 10(6):e1004465.
Application:WB-Ce, Mouse, Fibroblasts, Osteoblasts.
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A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.
Takagi M, Ishii T, Barnes AM, Weis M, Amano N, Tanaka M, Fukuzawa R, Nishimura G, Eyre DR, Marini JC, Hasegawa T.
PLoS One 2012 May; 7(5):e36809.
Application:IF, WB, Human, Skin fibroblasts.
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Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.
Amor IM, Rauch F, Gruenwald K, Weis M, Eyre DR, Roughley P, Glorieux FH, Morello R.
American Journal of Medical Genetics. Part A 2011 Nov; 155(11):2865.
Application:IF, WB-Ce, Human, Mouse, Fibroblasts, Osteoblasts.
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Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Pyott SM, Schwarze U, Christiansen HE, Pepin MG, Leistritz DF, Dineen R, Harris C, Burton BK, Angle B, Kim K, Sussman MD, Weis M, Eyre DR, Russell DW, McCarthy KJ, Steiner RD, Byers PH.
Human Molecular Genetics 2011 Apr; 20(8):1595.
Application:IF, Human, Fibroblasts, Mesenchymal cells.
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Generalized connective tissue disease in Crtap-/- mouse.
Baldridge D, Lennington J, Weis M, Homan EP, Jiang MM, Munivez E, Keene DR, Hogue WR, Pyott S, Byers PH, Krakow D, Cohn DH, Eyre DR, Lee B, Morello R.
PLoS One 2010 May; 5(5):e10560.
Application:IF, Human, Human fibroblasts.
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Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.
Chang W, Barnes AM, Cabral WA, Bodurtha JN, Marini JC.
Human Molecular Genetics 2010 Jan; 19(2):223.
Application:WB-Ce, WB-Tr, Human, Human fibroblasts.
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PPIB Mutations Cause Severe Osteogenesis Imperfecta.
van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM, van Roij MH, Elting MW, Verbeke JI, Wijnaendts LC, Shaw NJ, Hogler W, McKeown C, Sistermans EA, Dalton A, Meijers-Heijboer H, Pals G.
American Journal of Human Genetics 2009 Oct; 85(4):521.
Application:IHC, Human, Human bone.
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Recessive Osteogenesis Imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.
Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ, De Paepe A.
Journal of Medical Genetics 2009 Apr; 46(4):233.
Application:ICC, IF, WB-Ce, Human, Human dermal fibroblasts.
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Targeted exome sequencing identifies novel compound heterozygous mutations in LEPRE1 in a fetus with osteogenesis imperfecta type VIII.
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