GTF2H2 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. GTF2H2 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.蛋白别名为：GTF2H2; BTF2P44; General transcription factor IIH subunit 2; Basic transcription factor 2 44 kDa subunit; BTF2 p44; General transcription factor IIH polypeptide 2; TFIIH basal transcription factor complex p44 subunit;基因ID为：2966；蛋白质ID:Q13888
应用类型
WB，IHC-p，IF，ELISA补充：最优的抗体稀释比例需要基于客户实验进行优化.建议的起始稀释比例如下: WB: 1:500-1:2000, IHC-p: 1:100-1:300, IF: 1:200-1:1000, ELISA: 1:40000. Not yet tested in other applications.
免疫原
合成多肽：the N-terminal region of human TFIIH p44. at AA rangle: 1-80
