KAT2A
KAT2A (Lysine Acetyltransferase 2A), formerly known as GCN5 (General Control Non-derepressible 5), is a protein that in humans is encoded by the KAT2A gene. KAT2A is a member of the histone acetyltransferase (HAT) family, which plays a critical role in the modification of histones, thereby influencing chromatin structure and function. This modification process is essential for the regulation of gene expression within the cell.
Function[edit | edit source]
KAT2A is involved in the acetylation of histone and non-histone proteins, which is a key post-translational modification that affects protein interactions and DNA binding. Acetylation of histone tails by KAT2A alters the chromatin structure, making it more accessible for transcription factors and other proteins involved in gene transcription, thereby promoting gene expression. KAT2A targets histones H3 and H4, which are crucial for the formation of an open and transcriptionally active chromatin state.
Beyond its role in histone modification, KAT2A also acetylates non-histone proteins, including transcription factors such as p53, thereby modulating their activity, stability, and interaction with other proteins. This broadens the functional scope of KAT2A from merely a chromatin modifier to a regulator of diverse cellular processes including cell cycle progression, apoptosis, and DNA repair.
Clinical Significance[edit | edit source]
Alterations in the expression or function of KAT2A have been implicated in the development of various cancers. Overexpression of KAT2A has been observed in certain types of cancer, where it may contribute to oncogenesis by promoting excessive gene expression. Conversely, loss of KAT2A function has been associated with impaired DNA repair and increased susceptibility to genetic damage, further highlighting its role in maintaining genomic stability.
KAT2A also interacts with viral proteins in the context of viral infection, suggesting a potential role in the regulation of viral gene expression and replication. This interaction may have implications for the development of antiviral therapies.
Genetics[edit | edit source]
The KAT2A gene is located on the long (q) arm of chromosome 17 at position 21.31, designated as 17q21.31. It consists of multiple exons and encodes a protein of 837 amino acids. Variants and mutations within the KAT2A gene have been studied in the context of their potential link to disease states, particularly in cancer research.
Research Directions[edit | edit source]
Current research is focused on elucidating the full spectrum of KAT2A's substrates and understanding how its activity is regulated within the cell. There is also significant interest in developing inhibitors of KAT2A as potential therapeutic agents for cancer and other diseases associated with dysregulation of acetylation processes.
See Also[edit | edit source]
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Contributors: Prab R. Tumpati, MD