靶标：
GTF2H2
产品别名：
BTF2； BTF2 p44； BTF2P44； T-BTF2P44； TFIIH； p44； GTF2H2； general transcription factor IIH subunit 2； general transcription factor IIH subunit 2； general transcription factor IIH subunit 2； TFIIH basal transcription factor complex p44 subunit； basic transcription factor 2 44 kDa subunit； general transcription factor IIH polypeptide 2； general transcription factor IIH, polypeptide 2, 44kD subunit； general transcription factor IIH, polypeptide 2, 44kDa； 通用转录因子2H亚基2/TFIIH p44；
背景信息：
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 t
