RSPO4 : R-spondin 4

Description

The RSPO4 gene encodes a protein called R-spondin 4. This protein plays a crucial role in embryonic development, particularly in the formation of the gastrointestinal tract, pancreas, and skin. RSPO4 acts as a signaling molecule, activating the Wnt signaling pathway, which is essential for cell proliferation, differentiation, and tissue regeneration. Mutations in the RSPO4 gene can lead to various developmental abnormalities and diseases, highlighting its importance in maintaining proper cellular function.

Associated Diseases

• Congenital malformations, including anorectal malformations and pancreatic agenesis
• Familial adenomatous polyposis (FAP), an inherited disorder characterized by numerous polyps in the colon
• Certain types of cancer, such as colorectal cancer and gastric cancer

Did you know?

RSPO4 is a target for potential therapeutic interventions in diseases associated with Wnt signaling dysregulation, such as cancer.