This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene.
应用类型
WB
免疫原
The immunogen is a synthetic peptide directed towards the N-terminal region of human GTF2H2
来源宿主
Rabbit
反应性
Human
保存建议
For short term use, store at 2-8C up to 1 week. For long term storage, store at -20C in small aliquots to prevent freeze-thaw cycles.
其他
Aviva Systems Biology总部位于加利福尼亚州圣迭戈，在中国北京设有办公室，专注于为研究需求提供多克隆和单克隆抗体、ELISA试剂盒、蛋白质和定制服务。Aviva Systems Biology生产了24,000种经过验证的多克隆抗体，并提供近20,000种ELISA试剂盒，定制实验室服务包括蛋白表达和纯化、抗体开发，以及ELISA的开发、验证和生产。Aviva Systems Biology为与独特物种和靶标相关的研究提供独特工具，研究领域包括转录因子、癌症、心血管、细胞生物学、DNA损伤和修复、表观遗传学、信号转导、细胞分化、干细胞生物学等等。
