GTF2H5 cdna clone
GTF2H5 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]
Uniprot Description
GTF2H5: Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell. Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP). TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP. Belongs to the TFB5 family.
Protein type: DNA repair, damage; DNA-binding
Chromosomal Location of Human Ortholog: 6q25.3
Cellular Component: nucleoplasm
Biological Process: mRNA capping; nucleotide-excision repair; nucleotide-excision repair, DNA duplex unwinding; nucleotide-excision repair, DNA incision; nucleotide-excision repair, DNA incision, 3'-to lesion; nucleotide-excision repair, DNA incision, 5'-to lesion; nucleotide-excision repair, preincision complex assembly; nucleotide-excision repair, preincision complex stabilization; RNA elongation from RNA polymerase I promoter; RNA elongation from RNA polymerase II promoter; termination of RNA polymerase I transcription; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase I promoter; transcription initiation from RNA polymerase II promoter; transcription-coupled nucleotide-excision repair
Disease: Trichothiodystrophy 3, Photosensitive
Research Articles on GTF2H5
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Product Notes
The GTF2H5 gtf2h5 (Catalog #AAA1272716) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atggtcaacg tcttgaaagg agtgcttata gaatgtgatc ctgccatgaa gcagtttctg ctgtacttgg atgagtccaa tgccctgggg aagaagttca tcattcaaga cattgatgac actcacgtct ttgtaatagc agaattggtt aatgtcctcc aggagcgagt gggtgaatta atggaccaaa atgctttttc ccttacccag aaatga. It is sometimes possible for the material contained within the vial of "GTF2H5, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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