HSF4

HSF4 is a gene that encodes a member of the heat shock transcription factor family in humans. This family is characterized by the presence of a highly conserved DNA-binding domain known as the HSF DNA-binding domain. The HSF4 gene is located on the long arm of chromosome 16 at position 22.1, denoted as 16q22.1.

Function

The protein encoded by the HSF4 gene is a transcription factor that binds to heat shock elements (HSEs) in the promoters of heat shock genes. This binding results in the upregulation of these genes, which encode proteins that protect the cell from damage caused by heat shock and other types of stress. The HSF4 protein is primarily expressed in the lens of the eye, where it plays a crucial role in lens development and maintenance.

Clinical significance

Mutations in the HSF4 gene have been associated with autosomal dominant and autosomal recessive forms of cataract, a condition characterized by clouding of the lens in the eye. These mutations can lead to the production of an abnormal HSF4 protein that cannot bind to HSEs or activate heat shock genes, resulting in the accumulation of damaged proteins in the lens and the development of cataracts.

Research

Research into the HSF4 gene and its associated protein continues to provide valuable insights into the mechanisms of heat shock response, lens development, and cataract formation. This research may eventually lead to new treatments for cataracts and other conditions related to protein misfolding and aggregation.

See also

• Heat shock protein
• Transcription factor
• Cataract