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  4. RAI1 Antibody

RAI1 Antibody

  • 货号：
    CSB-PA019291GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q7Z5J4
  • 基因名：
    RAI1
  • 别名：
    RAI1 antibody; KIAA1820 antibody; Retinoic acid-induced protein 1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human RAI1
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • 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：
    Transcriptional regulator of the circadian clock components: CLOCK, ARNTL/BMAL1, ARNTL2/BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation.
  • 基因功能参考文献：
    1. This study identified from multiethnic meta-analyses stronger associations between the RAI1 locus and non-REM apnea-hypopnea index in men compared with women. PMID: 29077507
    2. This study provides information about the inheritance pattern and recurrence risk for patients with identified variants and demonstrates clinical and genetic overlap of neurodevelopmental disorders PMID: 28213671
    3. we report molecular and clinical characterizations of six subjects with the reciprocal phenomenon of deletions spanning both genes, i.e., PMP22-RAI1 deletions. Systematic clinical studies revealed features consistent with SMS, including features of intellectual disability, speech and gross motor delays, behavioral problems and ocular abnormalities. PMID: 27386852
    4. Mutations in RAI1, OTOF, and SLC26A4 may have roles in nonsyndromic hearing loss in Altaian families in Siberia PMID: 27082237
    5. South American cohort did not confirm the effect of the four candidate loci as modifier of onset age: mithocondrial A10398G polymorphism and CAGn at RAI1, CACNA1A, ATXN3, and ATXN7 genes PMID: 25869926
    6. RAI1 Gene Duplication is associated with Potocki-Lupski syndrome. PMID: 26544804
    7. Results show that when MBD5 and RAI1 are haploinsufficient, they perturb several common pathways that are linked to neuronal and behavioral development. PMID: 25853262
    8. Human RAI1 protein was found to be a highly expressed neuronal protein whose distribution matches well with its role in cognitive and motor skills. PMID: 24519454
    9. RAI1 gene polyglutamine repeat has a different distribution in our population. The 14-repeat allele is associated with perinatal depression and more frequent experience of physical and psychological symptoms during menstrual period. PMID: 24751306
    10. evolutionary conservation of chromatin binding of SPBP and RAI1 PMID: 24205348
    11. The Shc family protein adaptor, Rai, acts as a negative regulator of Th17 and Th1 cell development. PMID: 23345394
    12. A reduction of total RAI1 transcription factor activity is at the heart of the Smith-Magenis Syndrome clinical presentation. PMID: 23028815
    13. RAI1 is a positive transcriptional regulator of CLOCK, pinpointing a novel and important role for this gene in the circadian oscillator PMID: 22578325
    14. Mutation screening of the coding region of the RAI1 gene in patients with with features suggestive of Smith-Magenis syndrome identified two patients with novel heterozygous nonsynonymous alterations of unknown significance. PMID: 21897445
    15. Data suggest that RAI1 expression emerged as a genetic target for development of therapeutic interventions for SMS. PMID: 21857958
    16. Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations PMID: 21739587
    17. Functional studies have shown that RAI1 gene dosage is crucial for normal regulation of circadian rhythm, lipid metabolism and neurotransmitter function. PMID: 21545756
    18. haploinsufficiency affects feeding, satiety and fat deposition patterns; RAI1 directly regulates the expression of BDNF PMID: 20663924
    19. data on 2 cases of Smith-Magenis syndrome with mutation of RAI1; sequencing of RAI1 revealed mutation of the same heptameric C-tract (CCCCCCC) in exon 3 in both cases (c.3103delC one case and and c.3103insC in the other), resulting in frameshift mutations PMID: 20932317
    20. Results indicate that transcription factor activity and subcellular localization signals reside in two separate domains of the protein and both are essential for the correct functionality of RAI1. PMID: 20738874
    21. RAI1 may play a role in regulating behavior, as dominant frameshift mutations in RAI1 have been found in individuals with Smith-Magenis syndrome PMID: 12652298
    22. Two novel mutations in RAI1 were found in nondeletion patients with Smith-Magenis syndrome. The RAI1 C-terminus was found to have a plant homeo domain (PHD); this domain is conserved in the trithorax group of chromatin-based transcription regulators. PMID: 15565467
    23. Haploinsufficiency of the RAI1 gene is associated with most features of Smith-Magenis syndrome PMID: 15788730
    24. RAI1 seems to be responsible for the main features found with heterozygous 17p11.2 deletions inn patients with Smith-Magenis syndrome. PMID: 17468296
    25. gene expression profile of genes analyzed in RAI1 knockdown cells PMID: 19236431

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  • 相关疾病：
    Smith-Magenis syndrome (SMS)
  • 亚细胞定位：
    Cytoplasm. Nucleus.
  • 组织特异性：
    Expressed in all tissues examined with higher expression in the heart and brain. No expression was seen in the corpus callosum of the brain.
  • 数据库链接：

    HGNC: 9834

    OMIM: 182290

    KEGG: hsa:10743

    STRING: 9606.ENSP00000323074

    UniGene: Hs.655395