GTF2H2 Rabbit Polyclonal Antibody
Rabbit Polyclonal Anti-GTF2H2 Antibody
Product Datasheet for 'TA330121'
|Immunogen||The immunogen for anti-GTF2H2 antibody: synthetic peptide directed towards the middle region of human GTF2H2. Synthetic peptide located within the following region: HHLFPLDAFQEIPLEEYNGERFCYGCQGELKDQHVYVCAVCQNVFCVDCD|
|Formulation||Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.|
|Predicted Protein Size||44 kDa|
|Gene Name||general transcription factor IIH subunit 2|
|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. [provided by RefSeq, Jul 2008]|
|Synonyms||BTF2; BTF2P44; p44; T-BTF2P44; TFIIH|
|Note||Immunogen sequence homology: Human: 100%; Dog: 92%; Horse: 92%; Mouse: 85%; Zebrafish: 85%|
|Protein Families||Druggable Genome, Stem cell - Pluripotency, Transcription Factors|
|Protein Pathways||Basal transcription factors, Nucleotide excision repair|
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