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SGCG Antibody

  • 货号：
    CSB-PA021186GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q13326
  • 基因名：
    SGCG
  • 别名：
    35 kDa dystrophin associated glycoprotein antibody; 35 kDa dystrophin-associated glycoprotein antibody; 35DAG antibody; 35kD dystrophin associated glycoprotein antibody; 35kDa dystrophin-associated glycoprotein antibody; A4 antibody; DAGA4 antibody; DMDA antibody; DMDA1 antibody; Gamma SG antibody; Gamma-sarcoglycan antibody; Gamma-SG antibody; LGMD2C antibody; MAM antibody; MGC130048 antibody; Sarcoglycan gamma antibody; SCARMD2 antibody; SCG3 antibody; SGCG antibody; SGCG_HUMAN antibody; TYPE antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human SGCG
  • 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 0.1% 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
  • 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：
    Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
  • 基因功能参考文献：
    1. This study showed that fifteen families were shown to carry SGCG variants in patient with early onset severe muscular dystrophy. PMID: 27759885
    2. FADH2-dependent monooxygenase (SgcE6 and SgcC) that catalyzes the hydroxylation of a PCP-tethered substrate PMID: 27560143
    3. These results position archvillin as a mechanically sensitive component of the dystrophin complex and demonstrate that signaling defects caused by loss of gamma-SG occur both at the sarcolemma and in the nucleus. PMID: 25605665
    4. A report of two siblings with severe childhood onset limb-girdle muscular dystrophy type 2C supports the theory that the mutation G787A in the SGCG gene is a founder mutation. PMID: 24534832
    5. Molecular epidemiologic methods were used to calculate the frequency of heterozygotes for this SGCG mutation in Moroccan newborns and to estimate the prevalence of LGMD2C in the Moroccan population. PMID: 24552312
    6. Data suggest that an SNP in an intron of SGCG (rs9552911) is associated with type 2 diabetes [Genome-Wide Association Study in Sikh populations in India & Meta-Analysis] PMID: 23300278
    7. The C allele of the c.-94C>G polymorphism in delta-sarcoglycan is a risk factor for HCM, which is increased by the Amerindian component and can play an important role in the etiology and progression of disease in Mexican patients PMID: 22524166
    8. four Greek Gypsy patients with limb girdle muscular dystrophy type 2C carried the same homozygous C283Y mutation in the gamma-sarcoglycan gene PMID: 20345928
    9. The relative incidence of LGMD2C among Japanese Duchenne muscular dystrophy-like patients can be calculated as 1 in 161 patients suspected to have Duchenne muscular dystrophy. PMID: 20350330
    10. Clinical, histologic, and immunohistochemical characteristics of three children with limb-girdle muscular dystrophy type 2C. Two novel mutations in the gamma-sarcoglycan gene were present. We found phenotypic differences in two brothers. PMID: 15087111
    11. two unrelated patients of Puerto Rican descent who have identical previously undescribed homozygous E263K (G787A) missense mutations on exon 8, and a white North American child with del521T on one allele and a deletion of exon 6 on the other allele. PMID: 16832103
    12. The limb-girdle muscular dystrophy patients with gamma-sarcoglycan deficient LGMD2C do not enable an accurate prediction of the genotype. PMID: 18996010
    13. This study, the first mutational analysis of Indian patients with sarcoglycanopathies suggests gamma SG mutations were the most common and the most prevalent mutation in the gamma SG gene was 525del.T. PMID: 19770540

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  • 相关疾病：
    Limb-girdle muscular dystrophy 2C (LGMD2C)
  • 亚细胞定位：
    Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasm, cytoskeleton.
  • 蛋白家族：
    Sarcoglycan beta/delta/gamma/zeta family
  • 组织特异性：
    Expressed in skeletal and heart muscle.
  • 数据库链接：

    HGNC: 10809

    OMIM: 253700

    KEGG: hsa:6445

    STRING: 9606.ENSP00000218867

    UniGene: Hs.37167