TAF1
TAF1 is a gene that encodes the TATA-box binding protein (TBP)-associated factor, which is integral to the Transcription Factor II D (TFIID) complex in humans. TFIID is a crucial component of the transcription preinitiation complex, which is involved in the initiation of gene transcription by RNA polymerase II.
Function[edit | edit source]
The TAF1 protein is the largest subunit of the TFIID complex and plays a pivotal role in the process of transcription. It is involved in the recognition of the promoter region of genes and aids in the assembly of the transcription preinitiation complex. TAF1 also possesses histone acetyltransferase activity, which modifies chromatin structure to facilitate transcription.
Clinical Significance[edit | edit source]
Mutations in the TAF1 gene have been associated with X-linked dystonia-parkinsonism (XDP), a rare neurodegenerative disorder. XDP is characterized by the onset of dystonia, followed by parkinsonism in later stages. The exact mechanism by which TAF1 mutations cause XDP is currently under investigation.
Research[edit | edit source]
Research into the TAF1 gene and its associated protein continues to provide valuable insights into the complex process of gene transcription. Understanding the function and regulation of TAF1 may also shed light on the molecular mechanisms underlying neurodegenerative disorders like XDP.
See Also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD