HESX1 Antibody, HRP conjugated
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中文名稱：HESX1兔多克隆抗體, HRP偶聯
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貨號：CSB-PA871390LB01HU
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規格：￥880
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) HESX1 Polyclonal antibody
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Uniprot No.：
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基因名：
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別名：HESX1 antibody; HANF antibody; Homeobox expressed in ES cells 1 antibody; Homeobox protein ANF antibody; hAnf antibody
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宿主：Rabbit
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反應種屬：Human
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免疫原：Recombinant Human Homeobox expressed in ES cells 1 protein (1-185AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：HRP
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：>95%, Protein G purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 -
產品提供形式：Liquid
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應用范圍：ELISA
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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貨期：Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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功能：Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation.
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基因功能參考文獻：
- HESX1 mutations cause variable clinical features in congenital hypopituitarism patients, which suggests an influence of modifier genes or environmental factors on the phenotype PMID: 27000987
- A novel heterozygous mutation in the HESX1 gene and a novel homozygous mutation in the PROP1 gene were detected in 2 pedigrees with combined pituitary hormone deficiency PMID: 26111865
- Data indicate that HESX1, LHX4 and SOX3 polymorphisms may be associated with pituitary stalk interruption syndrome (PSIS). PMID: 23199197
- expand the phenotypic spectrum of HESX1 mutations in Kallman syndrome. PMID: 23465708
- Data show no mutations in HESX1, PROP1, and POU1F1 genes, seven different mutations in CTNNB1 in 8/16 patients, and hyperexpression of miR-150. PMID: 21761366
- A c.357+3G>A mutation prevents the generation of one of the alternative isoforms normally produced by the wild-type allele, predicting a truncated HESX1 protein. PMID: 21325470
- A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial Pituitary stalk interruption syndrome. PMID: 21270112
- Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic growth hormone defiency, combined pituitary hormone deficiency and septo-optic dysplasia. PMID: 20694410
- A large cohort of patients with schizencephaly, some with features of septo-optic dysplasia, were sequenced for mutations in LHX2, HESX1 and SOX2. PMID: 20949537
- Studies suggest that TLE1 and TLE3 might also play roles independent of HESX1 by interacting with other transcription factors like PROP1. PMID: 20181723
- HESX1 mutations in septo-optic dysplasia will lead to a detailed understanding of its function in the development of the forebrain and pituitary--review PMID: 12424431
- Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. The insertion of a heterozygous mutation (306/307ins AG) in the exon 2 of the HESX1. PMID: 12519827
- novel HESX1 mutation in genomic nucleotide position 1684 (g.1684delG), which results in a mutant protein with increased DNA binding causing repression of PROP1 gene activity PMID: 14557462
- HESX1, a paired-like homeotic gene, has recently been reported to be defective in two siblings with septo-optic dysplasia(SOD) p. 278 PMID: 14646405
- Mutations within HESX1 have been described in association with both dominant and recessive forms of septo-optic dysplasia, combined pituitary hormone deficiency and isolated growth hormone deficiency p. 207 PMID: 14714741
- index cases with autosomal-dominant isolated growth hormone deficiency and normal GH-1 gene had no HESX-1 mutations PMID: 16424673
- Two novel HESX1 mutations in a so-far-undescribed disease phenotype characterized by a life-threatening neonatal condition associated with anterior pituitary aplasia, in the absence of ectopic posterior pituitary and optic nerve abnormalities. PMID: 16940453
- Mutations within HESX1 are a rare cause of septooptic dysplasia and hypopituitarism PMID: 17148560
- mutations in the key developmental gene HESX1 in patients with septo-optic dysplasia and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition PMID: 17587179
- establish a link between HESX1 and DNMT1 and suggest a novel mechanism for the repressing properties of HESX1 PMID: 17931718
- A novel mutation in OTX2 binds normally to target genes and acts as a dominant negative inhibitor of HESX1 gene expression in combined pituittary hormone deficiency. PMID: 18728160
- Despite the significant influence of pairs 19/30 and 31/42 on the stability of the HESX1, their effect on DNA binding was modest. PMID: 19561080
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相關疾病：Septooptic dysplasia (SOD); Growth hormone deficiency with pituitary anomalies (GHDPA); Pituitary hormone deficiency, combined, 5 (CPHD5)
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亞細胞定位：Nucleus.
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蛋白家族：ANF homeobox family
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