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TTLL5 Antibody

  • 货号：
    CSB-PA715737LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) TTLL5 Polyclonal antibody
  • Uniprot No.：
    Q6EMB2
  • 基因名：
    TTLL5
  • 别名：
    KIAA0998 antibody; SRC1 and TIF2-associated modulatory protein antibody; STAMP antibody; TTLL5 antibody; TTLL5_HUMAN antibody; Tubulin polyglutamylase TTLL5 antibody; Tubulin--tyrosine ligase-like protein 5 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Tubulin polyglutamylase TTLL5 protein (1-269AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，TTLL5 Antibody (CSB-PA715737LA01HU)，的标记方式是Non-conjugated。对于TTLL5 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA715737LB01HU TTLL5 Antibody, HRP conjugated ELISA
    FITC CSB-PA715737LC01HU TTLL5 Antibody, FITC conjugated
    Biotin CSB-PA715737LD01HU TTLL5 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA
  • 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：
    Polyglutamylase which modifies tubulin, generating polyglutamate side chains on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Preferentially mediates ATP-dependent initiation step of the polyglutamylation reaction over the elongation step. Preferentially modifies the alpha-tubulin tail over a beta-tail. Required for CCSAP localization to both polyglutamylated spindle and cilia microtubules. Increases the effects of transcriptional coactivator NCOA2/TIF2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction.
  • 基因功能参考文献：
    1. in a study of 3 family members from 2 generations, identified in a previously misdiagnosed incomplete congenital stationary night blindness (icCSNB) case a splice-site mutation in intron 3 of TTLL5 (c.182-3_182-1delinsAA); reinvestigation of the clinical data corrected the diagnosis to cone dystrophy PMID: 28356705
    2. 5 homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe) and p.(Glu543Lys)] in TTLL5, in 8 patients from 6 families were identified. 2 male patients carrying truncating TTLL5 variants also displayed a reduction in sperm motility and infertility, whereas those carrying missense changes were fertile. TTLL has multiple viable isoforms, being highly expressed in retina, testis and spermatozoon flagellum. PMID: 28173158
    3. this study has performed exome sequencing in 28 individuals with a similar disease phenotype and subsequently used a casecontrol approach to identify mutations in TTLL5 as a cause of recessive retinal dystrophy. PMID: 24791901
    4. This study indicates that a physiological function of STAMP in several settings is to modify cell growth rates in a manner that can be independent of steroid hormones. PMID: 20374646
    5. STAMP is an important new, downstream component of GR action in both gene activation and gene repression. PMID: 17116691

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  • 相关疾病：
    Cone-rod dystrophy 19 (CORD19)
  • 亚细胞定位：
    Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Nucleus. Cytoplasm.
  • 蛋白家族：
    Tubulin--tyrosine ligase family
  • 组织特异性：
    Expressed in the retina, found in the rod and cone photoreceptors (at protein level). Widely expressed with highest levels in heart and skeletal muscle and low levels in other tissues.
  • 数据库链接：

    HGNC: 19963

    OMIM: 612268

    KEGG: hsa:23093

    STRING: 9606.ENSP00000298832

    UniGene: Hs.709609