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GCM2 Antibody

  • 货号：
    CSB-PA009324GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    O75603
  • 基因名：
    GCM2
  • 别名：
    GCM2 antibody; GCMB antibody; Chorion-specific transcription factor GCMb antibody; hGCMb antibody; GCM motif protein 2 antibody; Glial cells missing homolog 2 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Human GCM2
  • 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 0.1% 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：
    Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development.
  • 基因功能参考文献：
    1. The present study investigated the prevalence of the Y282D variant of the GCM2 gene and its association with clinical parameters in patients with a definitive histological diagnosis of sporadic parathyroid carcinoma (SPC) or atypical adenoma (AA). PMID: 28609842
    2. GCM2-associated primary hyperparathyroidism patients have greater preoperative parathyroid hormone levels, a greater rate of multigland disease, a lesser rate of biochemical cure PMID: 29108698
    3. Our results demonstrate that germline-activating mutations affecting the C-terminal conserved inhibitory domain of GCM2 can cause familial isolated hyperparathyroidism. PMID: 27745835
    4. Gata3 interacted with Gcm2 and MafB, two known transcriptional regulators of parathyroid development, and synergistically stimulated the PTH promoter. PMID: 25917456
    5. The higher frequency of GCM2 282D in primary hyperparathyroidismand enhanced transcriptional activity of this variant supports the notion that it could contribute causally to parathyroid tumorigenesis PMID: 25279501
    6. we identified the genetic defect in 35% of hypoparathyroidism patients in our cohort and discovered novel GCM2 mutations including submicroscopic deletion that was undetectable by array comparative genomic hybridization PMID: 25137426
    7. Four single nucleotide polymorphisms of GCMB gene were found in the GCMB gene (c.-44T > C [rs16870746], c.91-242A > G [rs9379881], c.343+163G > A [rs9393726], and c.583-72A > T [rs2076257]) in our cohort. PMID: 24133354
    8. First described GCM2 mutation in exon 3 in patients with severe congenital hypoparathyroidism. PMID: 23155703
    9. Data suggest that replacement of cysteine 106 with arginine (C106R) would interfere with DNA binding of glial cells missing B (GCMB). PMID: 22066718
    10. We conclude that mutations in the transcription factor GCMB do not seem to play a major role in the pathogenesis of primary hyperparathyroidism. PMID: 21642377
    11. These results indicate that GCMB and vitamin D receptor are involved in the positive and negative regulation of parathyroid hormone gene expression, respectively. PMID: 20558332
    12. Gcm2 is a useful adjunct marker for the diagnosis of parathyroid lesions. PMID: 21164298
    13. Our results have identified the first dominant missense GCMB mutation and help to increase our understanding of the mechanism underlying gene transactivation that is a prerequisite for the function of this parathyroid gland-specific transcription factor. PMID: 20463099
    14. These results expand the spectrum of hypoparathyroidism-associated GCMB mutations and help elucidate the molecular mechanisms underlying DNA-binding and transactivation that are required for this parathyroid-specific transcription factor. PMID: 20190276
    15. significant association of R110W variant of GCM2 with isolated hypoparathyroidism PMID: 19940031
    16. The glial cell missing gene, GCMB , encodes a transcription factor, which is a master regulator of parathyroid development. GCMB expression is upregulated in abnormal parathyroid glands of hyperparathyroidism and decreases in response to hypocalcemia. PMID: 15657585
    17. Although GCM2 mutations appear to be an uncommon cause of isolated hypoparathyroidism, the wide variety of GCM2 polymorphisms suggests that variant alleles may have a role in determining parathyroid function. PMID: 18182452
    18. The dominant-negative effect observed in vitro for both GCMB mutations provides a plausible explanation for the impaired PTH secretion observed in the two unrelated families with autosomal dominant form of hypoparathyroidism. PMID: 18583467
    19. Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene PMID: 18712808
    20. one function of Gcm2 is to maintain high levels of CaR expression in parathyroid cells. PMID: 19257819

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  • 相关疾病：
    Hypoparathyroidism, familial isolated (FIH); Hyperparathyroidism 4 (HRPT4)
  • 亚细胞定位：
    Nucleus.
  • 数据库链接：

    HGNC: 4198

    OMIM: 146200

    KEGG: hsa:9247

    STRING: 9606.ENSP00000368805

    UniGene: Hs.227098