HESX1 Antibody, FITC conjugated

說明書

中文名稱：

HESX1兔多克隆抗體, FITC偶聯(lián)
貨號：

CSB-PA871390LC01HU
規(guī)格：

￥880
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

產(chǎn)品名稱：

Rabbit anti-Homo sapiens (Human) HESX1 Polyclonal antibody
Uniprot No.：

Q9UBX0
基因名：

HESX1
別名：

HESX1 antibody; HANF antibody; Homeobox expressed in ES cells 1 antibody; Homeobox protein ANF antibody; hAnf antibody
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Recombinant Human Homeobox expressed in ES cells 1 protein (1-185AA)
免疫原種屬：

Homo sapiens (Human)
標(biāo)記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
產(chǎn)品提供形式：

Liquid
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評價

靶點詳情

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.
基因功能參考文獻(xiàn)：
1. 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
2. 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
3. Data indicate that HESX1, LHX4 and SOX3 polymorphisms may be associated with pituitary stalk interruption syndrome (PSIS). PMID: 23199197
4. expand the phenotypic spectrum of HESX1 mutations in Kallman syndrome. PMID: 23465708
5. 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
6. 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
7. 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
8. 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
9. 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
10. Studies suggest that TLE1 and TLE3 might also play roles independent of HESX1 by interacting with other transcription factors like PROP1. PMID: 20181723
11. 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
12. 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
13. 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
14. 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
15. 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
16. index cases with autosomal-dominant isolated growth hormone deficiency and normal GH-1 gene had no HESX-1 mutations PMID: 16424673
17. 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
18. Mutations within HESX1 are a rare cause of septooptic dysplasia and hypopituitarism PMID: 17148560
19. 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
20. establish a link between HESX1 and DNMT1 and suggest a novel mechanism for the repressing properties of HESX1 PMID: 17931718
21. 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
22. 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(guān)疾病：

Septooptic dysplasia (SOD); Growth hormone deficiency with pituitary anomalies (GHDPA); Pituitary hormone deficiency, combined, 5 (CPHD5)
亞細(xì)胞定位：

Nucleus.
蛋白家族：

ANF homeobox family
數(shù)據(jù)庫鏈接：

HGNC: 4877

OMIM: 182230

KEGG: hsa:8820

STRING: 9606.ENSP00000295934

UniGene: Hs.171980

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