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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
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:
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
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
Our results demonstrate that germline-activating mutations affecting the C-terminal conserved inhibitory domain of GCM2 can cause familial isolated hyperparathyroidism. PMID: 27745835
Gata3 interacted with Gcm2 and MafB, two known transcriptional regulators of parathyroid development, and synergistically stimulated the PTH promoter. PMID: 25917456
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
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
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
First described GCM2 mutation in exon 3 in patients with severe congenital hypoparathyroidism. PMID: 23155703
Data suggest that replacement of cysteine 106 with arginine (C106R) would interfere with DNA binding of glial cells missing B (GCMB). PMID: 22066718
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
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
Gcm2 is a useful adjunct marker for the diagnosis of parathyroid lesions. PMID: 21164298
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
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
significant association of R110W variant of GCM2 with isolated hypoparathyroidism PMID: 19940031
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
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
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