R-spondin 2
Protein and coding gene in humans
From Wikipedia, the free encyclopedia
R-spondin 2 also known as roof plate-specific spondin-2 is a secreted protein that in humans that is encoded by the RSPO2 gene.[5]
R-spondin 2 synergizes with canonical WNT to activate beta-catenin.[6][7] RSPO2 has been proposed to regulate craniofacial patterning and morphogenesis within pharyngeal arch 1 through ectoderm-mesenchyme signaling via the endothelin-Dlx5/6 pathway.[8]
In dogs, a variant on the Rspo2 gene is associated moustache and eyebrow thickness.[9]
In humans, recessive mutations in RSPO2 abrogate limb and lung development. Bruno Reversade and colleagues have reported in 2018 that loss of RSPO2 results in a syndrome of Tetra-amelia with lung agenesis. [10]
