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TBC1D24 Antibody

  • 货号：
    CSB-PA890752LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA890752LA01HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human pancreatic tissue using CSB-PA890752LA01HU at dilution of 1:100
    • Immunofluorescent analysis of Hela cells using CSB-PA890752LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) TBC1D24 Polyclonal antibody
  • Uniprot No.：
    Q9ULP9
  • 基因名：
    TBC1D24
  • 别名：
    TBC1D24 antibody; KIAA1171 antibody; TBC1 domain family member 24 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human TBC1 domain family member 24 protein (1-169AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，TBC1D24 Antibody (CSB-PA890752LA01HU)，的标记方式是Non-conjugated。对于TBC1D24 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-PA890752LB01HU TBC1D24 Antibody, HRP conjugated ELISA
    FITC CSB-PA890752LC01HU TBC1D24 Antibody, FITC conjugated
    Biotin CSB-PA890752LD01HU TBC1D24 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, IHC, IF
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
    IF 1:50-1:200
  • 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：
    May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function. Involved in the regulation of synaptic vesicle trafficking.
  • 基因功能参考文献：
    1. TBC1d24-ephrinB2 interaction regulates contact inhibition of locomotion in neural crest cell migration PMID: 30154457
    2. Silencing TBC1D24 inhibited MCF-7 cells growth in vitro and in vivo. TBC1D24 promoted breast carcinoma growth through the IGF1R/PI3K/AKT pathway. PMID: 29893377
    3. We identified a homozygous single base alteration, c.1415 G>A;p.G428R, in TBC1D24 gene. This mutation was found in the proband's parents and elder sister as heterozygous. The c.1415G>A mutation has not been reported previously. The c.1415G>A was considered to be damaging by SIFT software PMID: 29176366
    4. Here, we present a familial case of a lethal early-onset epileptic encephalopathy, associated with two novel compound heterozygous missense variants on the TBC1D24 gene, which were detected by exome sequencing PMID: 27541164
    5. TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness (not studied here), benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death PMID: 27281533
    6. TBC1D24-related epilepsy can manifest with hypotonia, developmental delays, and a variety of focal-onset seizures. PMID: 27502353
    7. mutations in TBC1D24 gene are a frequent cause (>2%) of NSHL in Morocco PMID: 26371875
    8. This report supports previous observations that mutations in TBC1D24 cause diverse phenotypes PMID: 25557349
    9. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. PMID: 24729539
    10. that the p.Ser178Leu mutation of TBC1D24 is a probable cause for dominant, nonsyndromic hearing impairment. Identification of TBC1D24 as the stereocilia-expressing gene may shed new light on its specific function in the inner ear. PMID: 24729547
    11. Novel variations in TBC1D24 do not allow prediction of functional phenotypes that might explain, at least in part, the symptoms of malignant migrating partial seizures of infancy (MMPSI). PMID: 24315024
    12. Recessive alleles of TBC1D24 can cause either epilepsy or nonsyndromic deafness in human. PMID: 24387994
    13. Mutations in TBC1D24 seem to be an important cause of DOORS syndrome and can cause diverse phenotypes. PMID: 24291220
    14. A TBC1D24 mutation associated with focal epilepsy, cognitive impairment and cerebro-cerebellar malformation is found in a family with a homozygous TBC1D24 mutation. PMID: 23517570
    15. we describe a familial form of MMPSI due to mutation in TBC1D24, revealing a devastating epileptic phenotype associated with TBC1D24 dysfunction. PMID: 23526554
    16. Findings expand the spectrum of the TBC1D24 mutation phenotype and the transcript isoforms. PMID: 23343562
    17. Two compound heterozygous missense mutations (D147H and A509V) in TBC1D24, a gene of unknown function, are responsible for familial infantile myoclonic epilepsy. PMID: 20727515
    18. A pathogenic mutation was identified in TBC1D24. PMID: 20797691

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  • 相关疾病：
    Familial infantile myoclonic epilepsy (FIME); Epileptic encephalopathy, early infantile, 16 (EIEE16); Deafness, autosomal dominant, 65 (DFNA65); Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS); Deafness, autosomal recessive, 86 (DFNB86)
  • 亚细胞定位：
    Cell membrane; Peripheral membrane protein. Cytoplasm. Cytoplasmic vesicle membrane. Cell junction, synapse, presynapse.
  • 组织特异性：
    Highest expression in brain.
  • 数据库链接：

    HGNC: 29203

    OMIM: 220500

    KEGG: hsa:57465

    STRING: 9606.ENSP00000293970

    UniGene: Hs.353087