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CDSN Antibody

  • 货号：
    CSB-PA005124GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q15517
  • 基因名：
    CDSN
  • 别名：
    AI747712 antibody; CDSN antibody; CDSN_HUMAN antibody; Corneodesmosin antibody; D6S586E antibody; DADB-141O4.5 antibody; Differentiated keratinocyte S protein antibody; HTSS antibody; S antibody; S protein antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Human CDSN
  • 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,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：
    Important for the epidermal barrier integrity.
  • 基因功能参考文献：
    1. results show, for the first time, the male-only associations of the PSORS1C3 gene with psoriasis risk and of the PSORS1C1/CDSN gene with severity of disease. However, the age dependent associations need to be validated in larger sample sizes as well as in other populations. PMID: 29589160
    2. We found that a burden of low-frequency coding variants in N4BP2, CDSN, PRTG, and AHRR were associated with increased risk of Nonsyndromic cleft lip with or without cleft palate (NSCL/P) . Low-frequency variants in other genes were associated with decreased risk of NSCL/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL/P PMID: 28425186
    3. Investigated potential direct protein-protein interactions between six late cornified envelope (LCE) proteins and two corneodesmosin sequence variants. Partial colocalization of LCE2 and CDSN was observed in normal and psoriasis skin. PMID: 25078048
    4. we report a patient with PSD caused by a novel homozygous large deletion in the 6p21.3 region encompassing the CDSN gene, which abrogates CDSN expression PMID: 24116970
    5. Case Report: homozygous deletion of CDSN was considered to be responsible for generalized peeling skin disease. PMID: 24794518
    6. PSORS1C1/CDSN gene may play a pathogenic role in ankylosing spondylitis PMID: 24210685
    7. A nonsense mutation (C717G) in cDNA sequence of the CDSN gene was identified in all three patients of the family. PMID: 22875505
    8. CDSN -619C/T polymorphism may not be associated with susceptibility to psoriasis. PMID: 22033905
    9. CDSN plays a vital role in the structural and functional integrity of the epidermis and the hair follicle integrity by preventing the rupture of corneodesmosome. PMID: 21628128
    10. identified mRNA transcripts from three genes CDSN, LOR and KRT9, showing strong over-expression in skin samples relative to samples from forensic body fluids, making them suitable markers for skin identification PMID: 21221983
    11. Study of consangunity in a large family points to a homozygous nonesense mutation of the gene coding for corneodesmosin. PMID: 21134591
    12. The distribution of corneodesmosin on the surface of the stratum corneum was mapped at the nanoscale using atomic force microscopy. PMID: 21182673
    13. Data identifies hypotrichosis simplex of the scalp as a human amyloidosis related to the aggregation of natively unfolded (mut)CDSN polypeptides into amyloid fibrils. PMID: 20448140
    14. Lack of corneodesmosin causes an epidermal barrier defect supposed to account for the predisposition to atopic diseases. PMID: 20691404
    15. identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp PMID: 12754508
    16. non-glycosylated CDSN is able to spontaneously form large homo-oligomers in vitro and that the N-terminal glycine loop domain is necessary for the formation of these macromolecular complexes. PMID: 15086562
    17. Association analyses show that haplotypes bearing CDSN*971T maps to a RNA stability motif and confers psoriasis susceptibility in a wide range of ethnic groups. PMID: 15333584
    18. phenotype of Netherton syndrome is a consequence of desmosomal fragility associated with premature proteolysis of corneodesmosin PMID: 15466487

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  • 相关疾病：
    Hypotrichosis 2 (HYPT2); Peeling skin syndrome 1 (PSS1)
  • 亚细胞定位：
    Secreted. Note=Found in corneodesmosomes, the intercellular structures that are involved in desquamation.
  • 组织特异性：
    Exclusively expressed in skin.
  • 数据库链接：

    HGNC: 1802

    OMIM: 146520

    KEGG: hsa:1041

    STRING: 9606.ENSP00000365465

    UniGene: Hs.310958