Recombinant Human GTF2H2, His-tagged

• Cat.No.: GTF2H2-2673H
• Product Overview: Recombinant Human GTF2H2 with a His tag is expressed inE. coli.MW: 72±5 KDa.

Specification

• Species: Human
• Source: E.coli
• Tag: His
• Description: 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
• Formulation: 20% Glycerol solution at 0.20 mg/ml. Datasheet for SSL1/p44, recombinant protein.
• Activity: It mediates the associationof the XPD/ERCC2-CAK complex to core TFIIH to form holo-TFIIH.
• Storage: Store at -80°C. At least 1 year at -80°C.

Gene Information

• Gene Name: GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa [ Homo sapiens ]
• Synonyms:
  GTF2H2; general transcription factor IIH, polypeptide 2, 44kDa; BTF2 p44; TFIIH basal transcription factor complex p44 subunit; basic transcription factor 2 44 kDa subunit; general transcription factor IIH polypeptide 2; general transcription factor IIH subunit 2; general transcription factor IIH, polypeptide 2, 44kD subunit; BTF2; TFIIH; BTF2P44; MGC102806; T-BTF2P44
• Gene ID: 2966
• mRNA Refseq: NM_001515
• Protein Refseq: NP_001506
• MIM: 601748
• UniProt ID: Q13888
• Chromosome Location: 5q12.2-q13.3
• Pathway: Basal transcription factors; Nucleotide excision repair
• Function: Function Evidence; contributes_to DNA-dependent ATPase activity; ATP binding; DNA binding; NOT DNA helicase activity; DNA-dependent ATPase activity; chromatin binding; protein C-terminus binding; protein N-terminus binding; transcription elongation regulator activity; translation factor activity, nucleic acid binding; zinc ion binding