Gtf2H3 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
:: infobox .infobox-gene
| Gene Symbol | GTF2H3 |
| Full Name | General Transcription Factor IIH Subunit 3 |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 2967 |
| OMIM | 601753 |
| Ensembl ID | ENSG00000156976 |
| UniProt | Q9Y5J0 |
| Associated Diseases | Alzheimer's Disease, Parkinson's Disease |
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GTF2H3 (General Transcription Factor IIH Subunit 3) is a regulatory subunit of the TFIIH complex that participates in both transcription initiation and nucleotide excision repair. GTF2H3 helps stabilize the TFIIH complex and facilitates the hand-off of repair intermediates to downstream factors. This subunit is essential for cellular viability and is expressed in all tissues, including the brain.
GTF2H3 is a subunit of the TFIIH complex that is essential for nucleotide excision repair (NER) and RNA polymerase II transcription. GTF2H3 helps stabilize the XPB helicase subunit and is required for optimal NER activity 1.
The TFIIH complex is particularly important in neurons because they rely on NER to repair DNA damage that cannot be handled by other repair pathways. Accumulation of unrepaired DNA lesions contributes to neuronal dysfunction in aging and neurodegenerative diseases.
GTF2H3 dysfunction contributes to the impaired DNA repair observed in AD. The accumulation of DNA damage is a hallmark of AD pathogenesis 2.
NER defects may make dopaminergic neurons more vulnerable to environmental toxins and endogenous oxidative stress in PD.
GTF2H3 is expressed throughout the brain, with moderate expression in all major brain regions.
The study of Gtf2H3 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.