SOX18

Description

SOX18, a member of the SRY (sex-determining region Y)-box family of transcription factors, plays a critical role in regulating various developmental processes. It is crucial for the formation of blood vessels, lymphatic vessels, and the nervous system. SOX18 exerts its function by binding to specific DNA sequences and controlling the expression of downstream genes involved in these processes. Mutations in the SOX18 gene can lead to a range of developmental abnormalities and diseases, highlighting its significance in human health.

Associated Diseases

• Alagille syndrome
• Lymphedema-distichiasis syndrome
• Hypoparathyroidism, deafness, and renal dysplasia (HDR syndrome)
• Holt-Oram syndrome

Did you know?

SOX18 is essential for the development of lymphatic vessels, which are responsible for transporting fluid and immune cells throughout the body. Mutations in SOX18 can lead to lymphatic vessel malformations, resulting in lymphedema, a condition characterized by fluid buildup in the tissues.