RSPO4

RSPO4, also known as R-spondin 4, is a protein that plays a role in cell signaling. It is a member of the R-spondin family of proteins, which are secreted molecules involved in Wnt signaling pathways. These pathways are crucial for various developmental processes in multicellular organisms, including embryonic development, tissue regeneration, and cell proliferation. RSPO4 specifically functions as a ligand that binds to receptors on the cell surface, thereby modulating the activity of Wnt signaling.

The gene encoding RSPO4 is located on human chromosome 20. Studies have indicated that RSPO4 is expressed in several tissues, including the developing eye and skin. Mutations in the RSPO4 gene have been linked to certain human genetic disorders. For instance, mutations in RSPO4 are a known cause of anophthalmia-esophageal-genitourinary (AEG) syndrome, a rare condition characterized by severe developmental abnormalities affecting the eyes, esophagus, and genitourinary system. Research continues to explore the precise mechanisms by which RSPO4 influences Wnt signaling and its broader implications in both normal development and disease pathogenesis. Understanding its function is vital for potential therapeutic interventions targeting Wnt-related conditions.