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COL6A1 Antibody

  • 货号：
    CSB-PA005751OA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunofluorescence staining of U251 cells with CSB-PA005751OA01HU at 1:133, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) COL6A1 Polyclonal antibody
  • Uniprot No.：
    P12109
  • 基因名：
  • 别名：
    Alpha 1 (VI) chain (61 AA) antibody; CO6A1_HUMAN antibody; COL6A1 antibody; COL6A2 antibody; COL6A3 antibody; collagen 6 antibody; Collagen alpha 2(VI) chain antibody; Collagen alpha 3(VI) chain antibody; Collagen alpha-1(VI) chain antibody; collagen six antibody; Collagen type VI alpha 1 antibody; Collagen type VI alpha 2 antibody; Collagen type VI alpha 3 antibody; Collagen VI alpha 1 polypeptide antibody; Collagen VI alpha 2 polypeptide antibody; Collagen VI alpha 3 polypeptide antibody; CollagenVI antibody; Human mRNA for collagen VI alpha 2 C terminal globular domain antibody; OPLL antibody; PP3610 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Peptide sequence from Human Collagen alpha-1(VI) chain protein (64-80AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，COL6A1 Antibody (CSB-PA005751OA01HU)，的标记方式是Non-conjugated。对于COL6A1 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA005751OB01HU COL6A1 Antibody, HRP conjugated ELISA
    FITC CSB-PA005751OC01HU COL6A1 Antibody, FITC conjugated
    Biotin CSB-PA005751OD01HU COL6A1 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IF
  • 推荐稀释比：
    Application Recommended Dilution
    IF 1:50-1:200
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 功能：
    Collagen VI acts as a cell-binding protein.
  • 基因功能参考文献：
    1. FKBP10 interacts with collagen VI and deficiency of FKBP10 reduces lung fibroblast migration by down-regulation of collagen VI synthesis. PMID: 29673351
    2. Five SNPs in the COL6A1 (and IL17RC) genes were found to be associated with susceptibility to ossification of the posterior longitudinal ligament in Han Chinese patients. PMID: 29764467
    3. the donor splice site of COL6A1 intron 14, associated with the phenotype of Bethlem myopathy or intermediate form, is a hot spot for ColVI myopathies PMID: 28984114
    4. The polypeptide is a novel non-triple helical polypeptide of type VI collagen alpha1 chain encoded by COL6A1, or NTH alpha1(VI). PMID: 29659864
    5. Missense mutations in COL6A1, COL11A2, FGFR1, and BMP2 genetically predispose patients to ossification of posterior longitudinal ligaments. PMID: 27246988
    6. We have used RNA-Seq to identify differentially expressed genes in cultured dermal fibroblasts from 13 COL6-RD individuals (8 dominant negative and 5 null) and 6 controls. To better assess the transcriptional changes induced by abnormal collagen VI in the extracellular matrix (ECM); we compared transcriptional profiles from subjects with DN mutations and subjects with null mutations to transcriptional profiles PMID: 29244830
    7. These data demonstrate, for the first time, a functional relationship between collagens VI and XII during osteogenesis. PMID: 26753503
    8. COL6A1 may have a role in progression and outcome of clear cell renal cell carcinoma PMID: 26317545
    9. upregulated in the airways of chronic obstructive pulmonary disease patients and exposed upon epithelial desquamation PMID: 25925694
    10. is the first report of UCMD recurrence in 2 siblings due to a germline mosaic COL6 gene mutation PMID: 25978941
    11. worsening of the functional disability appeared typically after the age of 40 in 47% of our patients with Bethlem myopathy, and was frequently associated with COL6A1 exon 14 skipping PMID: 25535305
    12. The second main finding of this study was that COL6A1 rs35796750 did not associate with the risk of anterior cruciate ligament injury in the self-reported Caucasian South African cohort. PMID: 25073002
    13. Type VI collagen and activated retinal Muller cells are present in iERM. PMID: 26447986
    14. Data indicate that collagen-VI-alpha-1 (COL6A1) is expressed in all grades of glioma. PMID: 25325876
    15. Data suggest the potential role of COL6 in promoting lung neoplasia in diseased lungs where COL6 is overexpressed. PMID: 25176343
    16. Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) in genomic DNA from various tissues; consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring. PMID: 25204870
    17. In UCDM, 1 mutation was indentified in COL6A1 in Chinese patients. PMID: 24801232
    18. These results suggest that these SNPs of BMP-2 and COL6A1 may not directly influence the expression of OPLL. PMID: 24737472
    19. Absence of ANXA2 leads to retention of COL6 in a late-Golgi, VAMP2-positive compartment. PMID: 24357721
    20. Mutations in each of the three collagen VI genes, COL6A1, COL6A2 and COL6A3, cause four types of muscle disorders: Ullrich congenital muscular dystrophy, Bethlem myopathy, limb-girdle muscular dystrophy, and autosomal recessive myosclerosis. (Review) PMID: 24443028
    21. The resulting proposed clinical classification system of collagen VI-related myopathy is unique in that it is based on the integration of both motor function and pulmonary function criteria. PMID: 24271325
    22. XPD mutations in trichothiodystrophy hamper COL6A1 expression. PMID: 23221806
    23. TP-alpha, collagen alpha-1(VI) chain and S100A9 are potential biomarkers of esophageal squamous cell carcinoma, and may play an important role in tumorigenesis and development of ESCC. PMID: 22583932
    24. the COL6A1 rs35796750 TT genotype is associated with increased performance during the bicycling of the South African Ironman triathlon PMID: 22012643
    25. the accumulation of abnormal mitochondria and sarcoplasmic reticulum is caused by a defect of autophagy and that restoration of a proper autophagic flux in Col6a1-/- muscles ameliorates these alterations. PMID: 21037586
    26. This study revealed several genotype-phenotype correlations, providing new insights into the natural history and course of ColVI myopathies. PMID: 20976770
    27. COL6 genes encoding type VI collagen PMID: 11932968
    28. Haplotype analysis clearly suggested linkage of Ullrich muscular dystrophy to the COL6A1/2 locus in two cases and to the COL6A3 loci in the third case. In the remaining nine patients, primary collagen VI involvement was excluded PMID: 12011280
    29. Bethlem myopathy is an autosomal dominantly inherited myopathy with contractures caused by mutations in the COL6A1 gene. PMID: 12374585
    30. Collagen VI deficiency might have caused electron microscopic changes of capillaries, while function of capillaries is apparently retained. PMID: 12736748
    31. a de novo heterozygous deletion of the COL6A1 gene results in a severe phenotype of classical Ullrich congenital muscular dystrophy PMID: 12840783
    32. linkage disequilibrium and association studies that SNPs in the collagen 6A1 gene (COL6A1) were strongly associated with Ossification of the posterior longitudinal ligament PMID: 12958705
    33. The failure of collagen VI to anchor the basal lamina to the interstitium is the cause of Ullrich disease. PMID: 14981181
    34. dominant mutations are common in Ullrich congenital muscular dystrophy (UCMD). PMID: 15563506
    35. we report a genotype-phenotype correlation demonstrating that heterozygous glycine substitutions in the triple-helix domain of COL6A1 are dominant and responsible for a milder Ullrich scleroatonic muscular dystrophy phenotype. PMID: 16130093
    36. COL6A1 could be responsible for the hyperostotic state, leading to ectopic bone formation in the spinal ligament. PMID: 16227896
    37. beta ig-h3 can differentially modulate the aggregation of collagen VI with biglycan and decorin PMID: 16434404
    38. Major promoter and enhancer sequences regulating COL6A1 expression are present in this bacterial artificial chromosome clone. PMID: 17334655
    39. This study identified a novel homozygous COL6A1 premature termination mutation in a UCMD patient that causes nonsense-mediated mRNA decay. PMID: 17537636
    40. This study demonstrates a homogeneous overexpression of the genes encoding for alpha1 and alpha2 chains for collagen type VI in nuchal skin of human trisomy 21 fetuses. PMID: 17602442
    41. COL6A1 may be a common susceptibility gene for ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament in Chinese Han population. PMID: 18246005
    42. Study reports 10 unrelated patients with a Ullrich congenital muscular dystrophy clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2 and COL6A3. PMID: 18366090
    43. Immunofluorescent labeling of collagen VI in fibroblast cultures is a useful addition to current diagnostic services for Bethlem myopathy (BM). It can be used to guide molecular genetic testing in a cost-effective and time-saving manner. PMID: 18378883
    44. Results found COL6A1 to be differentially expressed in human astrocytomas. PMID: 18551403
    45. SNP of COL6A1 were not related to radiographic progression of ankylosing spondylitis. PMID: 18634150
    46. These data indicate that collagen VI glycine mutations impair the assembly pathway in different ways and disease severity correlates with the assembly abnormality. PMID: 18825676
    47. Four patients affected by Ullrich congenital muscular dystrophy and carrying unusual mutations of COL6 genes affecting RNA splicing, were identified. PMID: 19309692

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  • 相关疾病：
    Bethlem myopathy 1 (BTHLM1); Ullrich congenital muscular dystrophy 1 (UCMD1)
  • 亚细胞定位：
    Secreted, extracellular space, extracellular matrix.
  • 蛋白家族：
    Type VI collagen family
  • 数据库链接：

    HGNC: 2211

    OMIM: 120220

    KEGG: hsa:1291

    STRING: 9606.ENSP00000355180

    UniGene: Hs.474053