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Recombinant Human Clarin-1 (CLRN1)

  • 中文名称：
    Recombinant Human Clarin-1(CLRN1)
  • 货号：
    CSB-CF005583HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    CLRN1
  • Uniprot No.：
  • 别名：
    CLRN1; USH3A; Clarin-1; Usher syndrome type-3 protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-232
  • 氨基酸序列
    MPSQQKKIIFCMAGVFSFACALGVVTALGTPLWIKATVLCKTGALLVNASGQELDKFMGE MQYGLFHGEGVRQCGLGARPFRFSFFPDLLKAIPVSIHVNVILFSAILIVLTMVGTAFFM YNAFGKPFETLHGPLGLYLLSFISGSCGCLVMILFASEVKIHHLSEKIANYKEGTYVYKT QSEKYTTSFWVIFFCFFVHFLNGLLIRLAGFQFPFAKSKDAETTNVAADLMY
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 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：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina.
  • 基因功能参考文献：
    1. Study founds 1 deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon that underlies severe Usher syndrome in a family on the Arabian Peninsula. PMID: 28469144
    2. This is the first report of Usher syndrome type 3 with a CLRN1 gene mutation in Asian populations. PMID: 25743179
    3. Possible digenism could not be excluded in two families segregating genomic variations in both MYO7A and USH2A, and two families with CLRN1 and USH2A. PMID: 22681893
    4. Two novel mutations in the CLRN1 gene, p.R207X and p.I168N, have been found in patients with Usher syndrome type 3. PMID: 23304067
    5. High-resolution measures of retinal structure demonstrate patterns of cone loss associated with CLRN1 mutations. PMID: 22964989
    6. This study confirmed using a novel mouse model carrying a Clrn1N48K knock-in mutation to investigate the consequence of the missense mutation N48K in mCLRN1 in vivo. PMID: 22787034
    7. Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III. PMID: 21675857
    8. Retinitis pigmentosa-associated mutations p.Pro31Leu and p.Leu154Trp may represent hypomorphic mutations, because substituted amino acids in transmembrane domains remain polar. PMID: 21310491
    9. The complexity of the CLRN1 gene and the identification of multiple splice variants may partially explain why mutations in CLRN1 result in substantial variation in clinical phenotype. PMID: 20717163
    10. a role for clarin-1 in hair cell and photoreceptor cell synapses, as well as a common pathophysiological pathway for different Usher syndromes PMID: 12080385
    11. revised structure of USH3 gene: new translation start site, 5' untranslated region, and transcript encoding 232-amino acid protein; four new disease-causing mutations; identified mouse and rat orthologues, and two human paralogues on chromosomes 4 and 10 PMID: 12145752
    12. USH3A and USH2A share patterns of rod and cone dysfunction and retinal structural abnormalities. PMID: 18281613
    13. clarin-1 has a role in the regulation and homeostasis of actin filaments PMID: 19423712
    14. Part of the pathogenesis of USH3 may be associated with defective intracellular trafficking as well as decreased stability of mutant CLRN1 proteins. PMID: 19753315
    15. Mutations in the USH3 gene underlie Usher syndrome type 3. PMID: 11524702

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  • 相关疾病：
    Usher syndrome 3A (USH3A); Retinitis pigmentosa 61 (RP61)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Clarin family
  • 组织特异性：
    Widely expressed. Found in the retina.
  • 数据库链接：

    HGNC: 12605

    OMIM: 276902

    KEGG: hsa:7401

    UniGene: Hs.745448