RSPO4 rabbit pAb

disease:Defects in RSPO4 are the cause of anonychia [MIM:206800]. This is a rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails.,domain:The FU repeat is required for activation and stabilization of beta-catenin.,function:Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the canonical Wnt/beta-catenin-dependent pathway, possibly via a direct interaction with Wnt proteins, and in a Wnt-independent beta catenin pathway through a receptor signaling pathway that may not use frizzled/LRP receptors.,miscellaneous:Upon injection into mice, it induces rapid onset of crypt cell proliferation involving beta-catenin stabilization. It also displays efficacy in a model of chemotherapy-induced intestinal mucositis.,PTM:Tyr-112 may be phosphorylated; however as this position is probably extracellular, the vivo relevance is not proven.,similarity:Belongs to the R-spondin family.,similarity:Contains 1 FU (furin-like) repeat.,similarity:Contains 1 TSP type-1 domain.,subunit:Binds heparin.,