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  4. Recombinant Human Corneodesmosin (CDSN)

Recombinant Human Corneodesmosin (CDSN)

  • 货号：
    CSB-YP005124HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP005124HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP005124HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP005124HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP005124HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CDSN
  • Uniprot No.：
  • 别名：
    AI747712; CDSN; CDSN_HUMAN; Corneodesmosin; D6S586E; DADB-141O4.5; Differentiated keratinocyte S protein; HTSS; S; S protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    33-529
  • 氨基酸序列
    KSIGTFSD PCKDPTRITS PNDPCLTGKG DSSGFSSYSG SSSSGSSISS ARSSGGGSSG SSSGSSIAQG GSAGSFKPGT GYSQVSYSSG SGSSLQGASG SSQLGSSSSH SGNSGSHSGS SSSHSSSSSS FQFSSSSFQV GNGSALPTND NSYRGILNPS QPGQSSSSSQ TSGVSSSGQS VSSNQRPCSS DIPDSPCSGG PIVSHSGPYI PSSHSVSGGQ RPVVVVVDQH GSGAPGVVQG PPCSNGGLPG KPCPPITSVD KSYGGYEVVG GSSDSYLVPG MTYSKGKIYP VGYFTKENPV KGSPGVPSFA AGPPISEGKY FSSNPIIPSQ SAASSAIAFQ PVGTGGVQLC GGGSTGSKGP CSPSSSRVPS SSSISSSSGS PYHPCGSASQ SPCSPPGTGS FSSSSSSQSS GKIILQPCGS KSSSSGHPCM SVSSLTLTGG PDGSPHPDPS AGAKPCGSSS AGKIPCRSIR DILAQVKPLG PQLADPEVFL PQGELLDSP
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

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