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COL6A2 Antibody

  • 货号：
    CSB-PA005752GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P12110
  • 基因名：
  • 别名：
    CO6A2_HUMAN antibody; COL6A2 antibody; Collagen alpha 2(VI) chain antibody; Collagen alpha-2(VI) chain antibody; collagen type VI alpha 2 antibody; Collagen VI alpha 2 polypeptide antibody; human mRNA for collagen VI alpha 2 C terminal globular domain antibody; PP3610 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human COL6A2
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC,IF
  • 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. binding of collagen VI to NG2 is essential for the direction of tendon fibroblasts migration in vitro. PMID: 26944560
    2. Genetic study showed a missense mutation in COL6A2 (c.820 G>A, p.Gly268Ser) that causes a glycine substitution in the Gly-X-Y collagenous motif, at the beginning of the collagenous triple helical domain. The c.820 G>A mutation segregated in all the affected patients. PMID: 27563703
    3. Mutations in COL6A2 gene are associated with aberrant mitochondria in Bethlem myopathy. PMID: 25533456
    4. In UCMD, 8 mutations were identified in COL6A2 in Chinese patients. PMID: 24801232
    5. COL6A2 is overexpressed in Down syndrome-affected umbilical cords at early and term gestational ages. PMID: 23452080
    6. Homozygous COL6A2 mutation, p.Asp215Asn, was identified in both affected siblings. We conclude that the COL6A2 p.Asp215Asn mutation is likely to be responsible for PME (Progressive Myoclonus Epilepsy) in this family. PMID: 23138527
    7. A deletion within intron 1A of the COL6A2 gene, occurring in compound heterozygosity with a small deletion in exon 28, was identified in a BM patient. PMID: 20302629
    8. the C2A splice variant has a role in recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy PMID: 20106987
    9. The alpha2(VI) chain modulates matrix-metalloproteinase (MMP) availability by sequestering proMMPs in the extracellular matrix, blocking proteolytic activity. PMID: 19698785
    10. the C-terminal globular domain of COL6A2 is not essential for triple-helix formation but is critical for microfibrillar assembly in Ullrich congenital muscular dystrophy PMID: 12218063
    11. A case of Ullrich disease is associated with complete deficiency of collagen VI and compound heterozygous mutations in the collagen VI alpha 2 gene with absence of microfibrils on electron microscopy. PMID: 12297580
    12. Bethlem myopathy is an autosomal dominantly inherited myopathy with contractures, caused by mutations in COL6A1 gene, COL6A2 gene or COL6A3 gene. PMID: 12374585
    13. In Ullrich syndrome, a heterozygous G-to-A substitution at position +5 in intron 23 & the corresponding heterozygous 6-bp deletion in exon 26 which deleted 1 of the 2 tandem repeats of the sequence CATCGG in nt 2268-2273 & 2274-2279 in COL6A2 ORF. PMID: 14981181
    14. diminished COL6A2 mRNA expression found to be primary pathogenic mechanism in UCMD patient PMID: 16075202
    15. This study demonstrates a homogenoeous overexpression of the genes encoding for alpha1 and alpha2 chains of collagen type VI in nuchal skin of human trisomy 21 fetuses. PMID: 17602442
    16. Results describe the characteristic features of myosclerosis myopathy with a homozygous collagen type 6A2 mutation responsible for a peculiar pattern of collagen VI defects. PMID: 18852439

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  • 相关疾病：
    Bethlem myopathy 1 (BTHLM1); Ullrich congenital muscular dystrophy 1 (UCMD1); Myosclerosis autosomal recessive (MYOSAR)
  • 亚细胞定位：
    Secreted, extracellular space, extracellular matrix. Membrane; Peripheral membrane protein. Note=Recruited on membranes by CSPG4.
  • 蛋白家族：
    Type VI collagen family
  • 数据库链接：

    HGNC: 2212

    OMIM: 120240

    KEGG: hsa:1292

    STRING: 9606.ENSP00000300527

    UniGene: Hs.420269