R-spondin 2
R-spondin 2 (RSPO2) is a protein that in humans is encoded by the RSPO2 gene. It is a member of the R-spondin family, which are secreted ligands of the Wnt signaling pathway.
Function[edit | edit source]
R-spondin 2 is a secreted activator protein with two cysteine-rich, furin-like domains. The encoded protein is important in the regulation of morphogenesis and cytodifferentiation. This protein acts in the Wnt signaling pathway and is thought to be a major player in the development of tissue and organ polarity, asymmetric cell division, and cell proliferation.
Clinical significance[edit | edit source]
Mutations in this gene have been associated with tetra-amelia syndrome. This is a rare autosomal recessive disorder characterized by the absence of all four limbs. Further studies are needed to confirm the precise role of this gene in this condition.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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