POMT1 Antibody
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中文名稱：POMT1兔多克隆抗體
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貨號(hào)：CSB-PA558310
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規(guī)格：￥1100
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圖片：
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The image on the left is immunohistochemistry of paraffin-embedded Human brain tissue using CSB-PA558310(POMT1 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200) -
The image on the left is immunohistochemistry of paraffin-embedded Human prostate cancer tissue using CSB-PA558310(POMT1 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)
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其他：
產(chǎn)品詳情
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Uniprot No.：
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基因名：POMT1
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別名：POMT1 antibody; Protein O-mannosyl-transferase 1 antibody; EC 2.4.1.109 antibody; Dolichyl-phosphate-mannose--protein mannosyltransferase 1 antibody
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宿主：Rabbit
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反應(yīng)種屬：Human
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免疫原：Synthetic peptide of Human POMT1
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免疫原種屬：Homo sapiens (Human)
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標(biāo)記方式：Non-conjugated
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抗體亞型：IgG
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純化方式：Antigen affinity purification
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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：-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
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產(chǎn)品提供形式：Liquid
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應(yīng)用范圍：ELISA,IHC
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推薦稀釋比：
Application Recommended Dilution ELISA 1:2000-1:5000 IHC 1:50-1:200 -
Protocols：
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儲(chǔ)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(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情
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功能：Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins.
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基因功能參考文獻(xiàn)：
- The child was found to carry a heterozygous missense mutation c.1939G>A (p.Ala647Thr) in exon 19 of the protein-O-mannosyltransferase 1 (POMT1) gene inherited from the mother and a heterozygous frameshift mutation c.2141delG (p.Trp714Ter) in exon 20 inherited from the father. PMID: 29419866
- These findings may expand phenotype and mutation spectrum of the POMT1 gene. Clinical diagnosis supplemented with molecular screening may result in more accurate diagnoses of, prognoses for, and improved genetic counselling for this disease PMID: 28157257
- O-mannosylation of cadherins and protocadherins does not require POMT1 and/or POMT2 in contrast to alpha-dystroglycan, and moreover, the O-Man glycans on cadherins are not elongated. PMID: 28512129
- results demonstrate functional and biochemical similarities between POMT1 and its orthologue from bakers' yeast Pmt4. PMID: 27358400
- Our results suggest that POMT activity is inversely proportional to clinical severity, and demonstrate that skin fibroblasts can be used for differential diagnosis of patients with alpha-dystroglycanopathies. We have provided clinical, histological, enzymatic and genetic evidence of POMT1 involvement in five unrelated Chinese patients. PMID: 27193224
- Inhibition of POMT1/2 in human mesencyhmal stem cells , resulted in complete abolishment of chondrogenesis and alterations of adipogenic and osteogenic potential together with a lethal effect during myogenic induction. PMID: 26245304
- report of 2 male siblings and an unrelated female with early onset muscular dystrophy and intellectual disability with minimal structural brain anomalies and no ocular abnormalities; a novel missense mutation (c.1958C>T; p.Pro653Leu) was identified PMID: 24491487
- Three patients with heterozygous POMT1 mutations showed left ventricular (LV) dilation and/or decrease in myocardial contractile force. PMID: 22549409
- the effects of replacing Arg(64), Glu(78) and Arg(138)residues in human POMT1 and POMT2 with Ala on complex formation and enzymatic activity were studied. PMID: 21782786
- the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis PMID: 20816175
- the N-glycosylation of POMT1 and POMT2 is required for maintaining the conformation as well as the activity of the POMT1-POMT2 complex. PMID: 19880378
- Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome PMID: 12369018
- Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation. PMID: 12757935
- active enzyme complex of POMT1 and POMT2 suggests that the regulation of protein O-mannosylation is complex and appears to be required for normal structure and function of alpha-dystroglycan in muscle and brain PMID: 14699049
- The authors report on a patient with Walker-Warburg syndrome and a novel POMT1 mutation. The patient expressed alpha-dystroglycan core protein, but fully glycosylated alpha-DG antibody epitopes were absent, associated with loss of laminin-binding activity PMID: 15037715
- Results indicate that mutations in the protein O-mannosyltransferase 1 gene result in a defect of protein O-mannosylation in Walker-Warburg syndrome patients. PMID: 15522202
- the phenotype of glycosylation disorders linked to POMT1 mutations. Furthermore, the A200P mutation is part of a conserved core haplotype, indicating an ancestral founder mutation. PMID: 15792865
- human protein O-mannosyltransferases 1 and 2 form heterocomplexes which possess protein O-mannosyltransferase activity PMID: 16698797
- Several mutations were found in the Protein O-Mannosyltransferase 1 and 2 (POMT1 and POMT2) genes, and one mutation was found in each of the fukutin and fukutin-related protein (FKRP) genes. PMID: 16887026
- An inverse Alu-repeated DNA element within exon 3 is associated with Walker Warburg syndrome in French Caucasian families. PMID: 17079174
- In conclusion, the lymphoblast-based enzymatic assay is a sensitive and useful method (i) to select patients harbouring POMGNT1, POMT1 or POMT2 mutations; (ii) to assess the pathogenicity of new or already described mutations. PMID: 17869517
- Thirteen CMD patients showed mutations in POMT1, But normal brain MRI associated with mental retardation and microcephaly. mutations in POMT1 (six out of 13). PMID: 18513969
- We conclude that a significant increase of POMT1 missense mutations may indicate a functional role in neoplastic conditions in individual glioneuronal and glial brain tumors. PMID: 18647264
- A double homozygous mutation in the POMT1 gene in two unrelated Gypsy families, is reported. PMID: 19519795
- pyramidal neurons frequently displayed abnormal (oblique, horizontal, or inverted) orientation in a 2.5-month-old infant with Walker-Warburg syndrome homozygotic for a novel POMT1 gene mutation PMID: 19639522
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相關(guān)疾病：Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1); Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1); Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1)
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亞細(xì)胞定位：Endoplasmic reticulum membrane; Multi-pass membrane protein.
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蛋白家族：Glycosyltransferase 39 family
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組織特異性：Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.
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