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GNAL Antibody

  • 货号：
    CSB-PA111285
  • 规格：
    ￥2024
  • 图片：
    • Western blot analysis of extracts from LOVO cells, using GNAL antibody.
    • Immunohistochemistry analysis of paraffin-embedded human brain tissue using GNAL antibody.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) GNAL Polyclonal antibody
  • Uniprot No.：
    P38405
  • 基因名：
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthesized peptide derived from internal of Human GNAL.
  • 免疫原种属：
    Homo sapiens (Human)
  • 克隆类型：
    Polyclonal
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:3000
    IHC 1:50-1:100
  • 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：
    Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters.
  • 基因功能参考文献：
    1. GNAL mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia. PMID: 27093447
    2. GNAL mutations are not a common cause of dystonia in the Brazilian population PMID: 26810727
    3. We report a novel GNAL mutation in Italian family with adult-onset, dominantly-inherited dystonia PMID: 26725140
    4. Mutations in the GNAL gene may not be a common cause of isolated dystonia in the Chinese population. PMID: 26365774
    5. This study demonstrated that Mutations in GNAL may cause Dystonia. PMID: 25847575
    6. identified two novel GNAL mutations: one heterozygous missense variant in GNAL exon 4, c.289A>G. PMID: 25382112
    7. The findings of this study further support GNAL as causative gene in adult-onset isolated dystonia. PMID: 24408567
    8. This study identified a novel likely disease-causing GNAL mutation in a Serbian patient with cervical dystonia and a classical DYT25 phenotype. PMID: 24729450
    9. Primary dystonia in the Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A GAG deletion. PMID: 24500857
    10. GNAL variants seem to be a rare cause of primary torsion dystonia in our mainly sporadic German sample. PMID: 24151159
    11. Our own data suggest that GNAL mutations do not represent a common cause of dystonia in the U.K. population. PMID: 24222099
    12. The GNAL dystonia gene is central for striatal responses to dopamine (DA) and is a component of a molecular pathway already implicated in DOPA-responsive dystonia (DRD). PMID: 24144882
    13. GNAL mutations potentially increase ethnic susceptibility to movement disorders induced by dopamine antagonists. PMID: 24535567
    14. Mutations in GNAL gene can cause adult-onset primary dystonia in Chinese patients PMID: 23759320
    15. Familial adult-onset primary dystonia can result from mutations in GNAL. PMID: 23449625
    16. Mutations in GNAL cause primary torsion dystonia. PMID: 23222958
    17. these findings provide important clues to understanding physiological functions of XLGalpha(olf). PMID: 22120635
    18. investigation of whether polymorphisms in the alpha subunit of the Golf gene (A-->G in intron 3, and T-->G in intron 10) are associated with major depression; additionally tested for a parent-of-origin effect in separated gender groups PMID: 11901355
    19. promotes cellular invasion, survival and neuroendocrine differentiation in colon, kidney and prostate epithelial cells PMID: 12037684
    20. No support for the hypothesis that the olfactory G-protein gene is a major susceptibility factor for bipolar disorders. PMID: 12782961
    21. identified a transcriptional variant of the GNAL gene in chromosome 18p11.2 in susceptibility to bipolar disorder and schizophrenia PMID: 16044173
    22. Galpha(olf) variant XLGalpha(olf) interacts with the human adenosine A2A receptor PMID: 16818375
    23. We hypothesized that the G(s)-like subunit Galpha(olf), expressed in D1-rich areas of the brain, contributes to the genetic susceptibility of ADHD. We examined the inheritance pattern of 12 GNAL polymorphisms in 258 nuclear families. PMID: 17166517
    24. This study provides important clues toward understanding physiological functions of XLGalpha(olf). PMID: 19245791

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  • 相关疾病：
    Dystonia 25 (DYT25)
  • 蛋白家族：
    G-alpha family, G(s) subfamily
  • 组织特异性：
    Detected in olfactory neuroepithelium, brain, testis, and to a lower extent in retina, lung alveoli, spleen. Trace amounts where seen in kidney, adrenal gland and liver. Found to be expressed in all the insulinomas examined.
  • 数据库链接：

    HGNC: 4388

    OMIM: 139312

    KEGG: hsa:2774

    STRING: 9606.ENSP00000334051

    UniGene: Hs.136295