Rabbit anti-Human GTF2H2 Polyclonal Antibody

Uniprot Id

Q13888

Target Species

Human

Target Name

GTF2H2

Target Full Name

General transcription factor IIH subunit 2

Target Function

Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. The N-terminus of GTF2H2 interacts with and regulates XPD whereas an intact C-terminus is required for a successful escape of RNAP II form the promoter.

Target Subcellular Location

Nucleus.

Target Protein Families

GTF2H2 family

Target Tissue Specificity

Widely expressed, with higher expression in skeletal muscle.

Target Synonyms

Basic transcription factor 2 44 kDa subunit; BTF2; BTF2 p44; BTF2-p44; BTF2P44; General transcription factor IIH; General transcription factor IIH polypeptide 2; General transcription factor IIH subunit 2; General transcription factor IIH; polypeptide 2; 44kDa; Gtf2h2; MGC102806; p44; T BTF2P44 ; T-BTF2P44; TF2H2_HUMAN; TFIIH; TFIIH basal transcription factor complex p44 subunit

Target Background

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.