GTF2H5

From WikiMD's Wellness Encyclopedia

GTF2H5[edit | edit source]

GTF2H5 is a gene that encodes a subunit of the general transcription factor IIH (TFIIH) complex, which is essential for transcription initiation and nucleotide excision repair (NER) in humans. The TFIIH complex plays a critical role in the transcription of DNA into RNA by RNA polymerase II and is also involved in the repair of DNA damage.

Structure[edit | edit source]

The GTF2H5 gene is located on chromosome 6 in humans. The protein encoded by GTF2H5 is a small subunit of the TFIIH complex, which consists of several other subunits, including XPB, XPD, p44, p34, p52, p62, and CDK7, among others. GTF2H5 is also known as the TFB5 subunit and is involved in stabilizing the interaction between the core TFIIH complex and other transcription factors.

Function[edit | edit source]

GTF2H5, as part of the TFIIH complex, is involved in two major cellular processes:

1. Transcription Initiation: TFIIH is a key component of the pre-initiation complex (PIC) that assembles at the promoter region of genes. It is responsible for unwinding DNA to allow RNA polymerase II to access the template strand and begin transcription.

2. Nucleotide Excision Repair (NER): TFIIH is also crucial for the NER pathway, which repairs bulky DNA lesions such as those caused by UV radiation. GTF2H5, as part of TFIIH, helps in the recruitment and stabilization of other NER factors at the site of damage.

Clinical Significance[edit | edit source]

Mutations in the GTF2H5 gene can lead to defects in transcription and DNA repair, contributing to various genetic disorders. One such disorder is Trichothiodystrophy, a condition characterized by brittle hair, intellectual disability, and photosensitivity. This condition is often associated with mutations in genes encoding subunits of the TFIIH complex, including GTF2H5.

Research and Studies[edit | edit source]

Research on GTF2H5 and the TFIIH complex continues to provide insights into the mechanisms of transcription and DNA repair. Studies have shown that the integrity of the TFIIH complex is crucial for maintaining genomic stability and preventing diseases related to DNA damage.

Also see[edit | edit source]


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Contributors: Prab R. Tumpati, MD