Regulation of Gene Expression By GTF2H1: Potential Drug Target and Biomarker for Diseases

Target Name: GTF2H1

NCBI ID: G2965

GTF2H1

Regulation of Gene Expression By GTF2H1: Potential Drug Target and Biomarker for Diseases

General transcription factor IIH (GTF2H) is a subunit of the GTF2H gene, which is located on chromosome 18. GTF2H is a protein that plays a crucial role in the regulation of gene expression, specifically in the process of transcription. GTF2H is composed of two distinct subunits, GTF2H1 and GTF2H2, each of which has distinct functions. In this article, we will focus on GTF2H1, which is a drug target and a potential biomarker for several diseases.

GTF2H1 is a 24.5 kDa protein that contains 1192 amino acid residues. It consists of a N-terminal alpha helix, a middle alpha helix, and a C-terminal T-loop. GTF2H1 is highly conserved, with only one missense mutation identified in the database. The function of GTF2H1 is to regulate gene expression by binding to specific DNA sequences. This interaction between GTF2H1 and DNA allows it to control the access of transcription factors to the promoter region, thereby regulating gene expression.

GTF2H1 has been shown to play a role in several diseases, including cancer, neurodegenerative diseases, and developmental disorders. One of the most well-studied functions of GTF2H1 is its role in cancer. In many cancers, gene expression is disrupted, leading to the development of an aggressive and malignant phenotype. GTF2H1 has been shown to play a role in regulating cancer cell proliferation and survival by binding to specific DNA sequences in gene expression regions.

In addition to its role in cancer, GTF2H1 has also been shown to be involved in neurodegenerative diseases. Many neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, are characterized by the progressive loss of brain cells and the development of neurofibrillary tangles. GTF2H1 has has been shown to play a role in the regulation of neurodegenerative diseases by controlling the expression of genes involved in neurotransmitter synthesis and release.

Finally, GTF2H1 has also been shown to be involved in developmental disorders. GTF2H1 is a critical factor in the regulation of gene expression in many developing organisms, including humans. The disruption of GTF2H1 has been shown to lead to the development of developmental disorders, such as Down syndrome and trisomy 21.

In conclusion, GTF2H1 is a protein that plays a crucial role in the regulation of gene expression and has been shown to be involved in several diseases, including cancer, neurodegenerative diseases, and developmental disorders. Its functions are dependent on its ability to bind to specific DNA sequences, which allows it to regulate the access of transcription factors to the promoter region. As such, GTF2H1 is a potential drug target and a biomarker for several diseases.

Protein Name: General Transcription Factor IIH Subunit 1

Functions: Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription

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