SETDB1

SETDB1 (SET Domain Bifurcated 1) is a protein that in humans is encoded by the SETDB1 gene. It is a member of the SET domain family of lysine methyltransferases, which are involved in the regulation of chromatin structure and gene expression by modifying histones.

Function

SETDB1 is a histone H3K9-specific methyltransferase that silences genes by functioning as a chromatin modifier. It plays a critical role in maintaining the identity and function of differentiated cells. SETDB1 is also involved in early embryonic development and is essential for the development of the central nervous system.

Clinical significance

Alterations in the SETDB1 gene have been associated with several types of cancer, including lung cancer, melanoma, and gastric cancer. Overexpression of SETDB1 has been observed in these cancers, suggesting that it may function as an oncogene. In addition, mutations in SETDB1 have been linked to autism spectrum disorder and schizophrenia.

Research

Research on SETDB1 is ongoing, with studies focusing on its role in cancer development and progression, as well as its potential as a therapeutic target. In addition, research is being conducted to better understand the role of SETDB1 in neurodevelopmental disorders.

See also

• Histone methyltransferase
• Epigenetics
• Chromatin
• Gene expression