CHST6 Antibody
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中文名稱：CHST6兔多克隆抗體
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貨號：CSB-PA033577
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規(guī)格：￥2024
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圖片：
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Immunofluorescence analysis of A549 cells, using CHST6 antibody.
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其他：
產(chǎn)品詳情
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產(chǎn)品名稱：Rabbit anti-Homo sapiens (Human) CHST6 Polyclonal antibody
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Uniprot No.：
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基因名：CHST6
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宿主：Rabbit
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反應(yīng)種屬：Human
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免疫原：Synthesized peptide derived from internal of Human CHST6.
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免疫原種屬：Homo sapiens (Human)
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克隆類型：Polyclonal
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純化方式：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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濃度：It differs from different batches. Please contact us to confirm it.
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產(chǎn)品提供形式：Liquid
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應(yīng)用范圍：ELISA,IF
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推薦稀釋比：
Application Recommended Dilution IF 1:100-1:500 -
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(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情
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功能：Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Cooperates with B4GALT4 galactosyltransferase and B3GNT7 N-acetylglucosaminyltransferase to construct and elongate the sulfated disaccharide unit [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer. Involved in biosynthesis of keratan sulfate in cornea, with an impact on proteoglycan fibril organization and corneal transparency. Involved in sulfation of endothelial mucins such as GLYCAM1.
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基因功能參考文獻(xiàn)：
- This is the first molecular analysis of TGFBI and CHST6 in Turkish patients with different types of corneal dystrophies. PMID: 27829782
- E71Q mutation results in a non-conservative amino acid change in a highly conserved functional domain of the human CHST6 that is essential for enzyme activity as the cause of Macular corneal dystrophy. PMID: 27439461
- Three novel and six previously reported disease-causing CHST6 mutations were identified in Korean patients with macular corneal dystrophy. PMID: 26604660
- Homozygous or compound heterozygous CHST6 mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys). PMID: 25081284
- This novel gene mutation expands the mutation spectrum of the CHST6 gene and contributes to the study of molecular pathogenesis of corneal dystrophy. PMID: 24311932
- Genetic mutation heterogeneity was revealed. No phenotype heterogeneity was revealed among patients with in vivo corneal morphology assessment or histological analysis. PMID: 24926691
- This study improves the knowledge of the genetic features of Mexican patients with corneal stromal dystrophies by identifying mutations in the TGFBI, CHST6, and GSN genes. PMID: 24801599
- Macular corneal dystrophy (MCD) may result from other changes in the regulatory elements of CHST6 or from genetic heterogeneity. PMID: 22261655
- analysis of pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies PMID: 21887843
- CHST6 gene sequencing revealed 2 heterozygous mutations in case 1, a p.Arg211Gln and a novel mutation of p.Arg177Gly and a novel homozygous mutation of p.Pro186Arg in case 2. PMID: 21242781
- CHST6 mutations may be responsible for the pathogenesis of macular corneal dystrophy (MCD) in Chinese patients. PMID: 20539220
- Novel mutations are thought to result in loss of corneal sulfotransferase function. PMID: 11818380
- patients with MCD (macular corneal dystrophy) combined with those reported in previous studies indicated CHST6 mutational heterogeneity. PMID: 12824236
- Two mutations (homozygoous R211W and compound heterozygous R211W/A217T) should be subclassified immunohistochemically into new phenotypes of macular corneal dystrophy. PMID: 12882769
- Mutations identified in the CHST6 gene cosegregated with the disease phenotype in all but one family studied and thus caused macular corneal dystrophy. PMID: 12882775
- novel frameshift and compound heterozygous mutations might be responsible for macular corneal dystrophy PMID: 12883341
- Mutations in the coding region of the CHST6 gene are associated with type I MCD (macular corneal dystrophy) in a cohort of patients in southern India. PMID: 14609920
- We identified 22 (5 nonsense, 5 frameshift, 2 insertion, and 10 missense) mutations in 36 patients from 31 families with MCD (macular corneal dystrophy) PMID: 14735064
- mutations in the coding region of the CHST6 gene are associated with type I macular corneal dystrophy in a cohort of patients from the United States. PMID: 15013869
- the stem region of GlcNAc6ST-1 influences substrate specificity, independent of its role in dimerization or Golgi retention. PMID: 15220337
- These novel mutations are expected to result in loss of CHST6 function, which would account for the MCD (macular corneal dystrophy) phenotype. PMID: 15652851
- These findings indicate that the predicted protein that is encoded by CHST6 is more severely affected in the individual with MCD type I than in the siblings with MCD type II. PMID: 15953452
- Twenty-six different mutations of the CHST6 gene in macular corneal dystrophy in India were identified, of which 14 mutations are novel. PMID: 16207214
- CHST6 mutations are cardinal to the pathogenesis of macular corneal dystrophy(MCD). MCD may result from other subtle changes in CHST6 or from genetic heterogeneity. PMID: 16568029
- Homozygous p.A128V mutation in CHST6 gene and compound heterozygote for p.A128V and frameshift p.V6fs resulting from 10-base pair insertion in macular corneal dystrophy(MCD)I. Compound heterozygotes for p.A128V and p.V329L in MCD II. PMID: 17093400
- In vivo laser confocal microscopy is capable of high-resolution visualization of characteristic corneal microstructural changes related to 3 types of genetically mapped corneal stromal dystrophies. PMID: 17846354
- Novel homozygous missense mutation involving a highly conserved amino acid (c.518T > C; Leu173Pro). PMID: 17896316
- study describes four CHST6 missense mutations present in seven of eight Czech macular corneal dystrophy (MCD) families of which the c.494G>A (p.C165Y) was novel; findings support a common founder effect for MCD in the Czech Republic PMID: 17962390
- Our study shows the wide range of diagnostic findings and therapeutical options in patients suffering from macular corneal dystrophy depending on the genotype. PMID: 18500531
- GlcNAc6ST-1 transcription is coordinated with the NF-kappaB/GATA-3 axis, which is known to figure heavily in Th2 cell differentiation PMID: 18849568
- in macular corneal dystrophy (MCD) patients, there were no simple correlations between immunophenotypes and specific mutations in CHST6, suggesting that factors other than CHST6 mutations may be contributing to the immunophenotypes in MCD PMID: 19204788
- study identified seven novel and three previously reported CHST6 mutations in our panel consisting of 20 Iranian macular corneal dystrophy patients from 12 families PMID: 19223992
- The novel compound heterozygous mutations may contribute to the loss of CHST6 function, which induced the abnormal metabolism of keratan sulfate (KS) that deposited in the corneal stroma. PMID: 19365571
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相關(guān)疾病：Macular dystrophy, corneal (MCD)
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亞細(xì)胞定位：Golgi apparatus membrane; Single-pass type II membrane protein.
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蛋白家族：Sulfotransferase 1 family, Gal/GlcNAc/GalNAc subfamily
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組織特異性：Expressed in cornea. Mainly expressed in brain. Also expressed in spinal cord and trachea.
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