GCM2 Antibody

說明書

中文名稱：

GCM2兔多克隆抗體
貨號：

CSB-PA009324GA01HU
規格：

￥3,900
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

O75603
基因名：

GCM2
別名：

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
反應種屬：

Human
免疫原：

Human GCM2
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

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.
基因功能參考文獻：
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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相關疾病：

Hypoparathyroidism, familial isolated (FIH); Hyperparathyroidism 4 (HRPT4)
亞細胞定位：

Nucleus.
數據庫鏈接：

HGNC: 4198

OMIM: 146200

KEGG: hsa:9247

STRING: 9606.ENSP00000368805

UniGene: Hs.227098

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