SOX18

SOX18 is a gene that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development.

Structure

The SOX18 gene is located on the long (q) arm of chromosome 20 at position 11.2. The gene spans approximately 2.5 kilobases and consists of two exons. The SOX18 protein contains a single HMG box DNA-binding domain, which is characteristic of SOX family members.

Function

SOX18 is a transcription factor that is involved in the regulation of embryonic development and cell fate determination. It plays a crucial role in the development of the cardiovascular system, lymphatic system, and hair follicles. It is also involved in the regulation of endothelial cell proliferation and migration, as well as in the formation of a network of lymphatic vessels in embryogenesis.

Clinical Significance

Mutations in the SOX18 gene have been associated with hypotrichosis-lymphedema-telangiectasia syndrome, a rare disorder characterized by a reduced amount of hair on the scalp (hypotrichosis), swelling caused by a buildup of fluid (lymphedema), and small widened blood vessels (telangiectases).

Research

Research on SOX18 has been focused on understanding its role in development and disease. Studies have shown that it plays a critical role in the formation of blood vessels and lymphatic vessels. It is also being studied for its potential role in cancer, as it has been found to be overexpressed in certain types of cancer, including melanoma and breast cancer.

See Also

• SOX gene family
• Transcription factor
• Hypotrichosis-lymphedema-telangiectasia syndrome