ASCL1

ASCL1 (Achaete-Scute Family BHLH Transcription Factor 1) is a protein that in humans is encoded by the ASCL1 gene. This protein is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It plays a crucial role in neurogenesis, the process by which neurons are generated from neural stem cells.

Function

The ASCL1 gene is a member of the achaete-scute family. It encodes a transcription factor that plays a key role in the regulation of neural stem cell differentiation into neurons. This process is critical for the development of the nervous system.

The ASCL1 gene is also involved in the development of certain types of cancer, including small cell lung cancer and neuroendocrine tumors. It is considered a potential therapeutic target for these types of cancer.

Structure

The ASCL1 gene is located on the short (p) arm of chromosome 12 at position 23.2. The protein encoded by this gene contains a basic helix-loop-helix (BHLH) domain, which allows it to bind to DNA and regulate gene expression.

Clinical significance

Mutations in the ASCL1 gene have been associated with a variety of diseases, including Hirschsprung's disease, a condition characterized by the absence of nerve cells in the muscles of the colon, and neuroendocrine tumors, a type of cancer that starts in the hormone-producing cells of the body's neuroendocrine system.

Research

Research into the ASCL1 gene and its associated protein is ongoing, with a focus on understanding its role in neurogenesis and its potential as a therapeutic target in cancer treatment.

External links

• ASCL1 at the National Center for Biotechnology Information
• ASCL1 at the Genetics Home Reference
• ASCL1 at GeneCards

See also

• Achaete-scute complex
• Basic helix-loop-helix
• Neurogenesis
• Small cell lung cancer
• Neuroendocrine tumors