R-spondin 2
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). 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.[1]
R-spondin 2 synergizes with canonical WNT to activate beta-catenin.[2][3] RSPO2 has been proposed to regulate craniofacial patterning and morphogenesis within pharyngeal arch 1 through ectoderm-mesenchyme signaling via the endothelin-Dlx5/6 pathway.[4]
In dogs, a variant on the Rspo2 gene is associated moustache and eyebrow thickness.[5]
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. [6]
References
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
