RSPO-4 (RSPO1) Antibody – Rat Monoclonal

This gene is a member of the R-spondin family and encodes a secreted activator protein with two cystein-rich, furin-like domains and one thrombospondin type 1 domain. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. [provided by RefSeq, Jul 2008]

R-spondin-1: Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the canonical Wnt/beta-catenin-dependent pathway and in non-canonical Wnt signaling pathway, probably by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway. Has a essential roles in ovary determination. Defects in RSPO1 are the cause of palmoplantar keratoderma with squamous cell carcinoma of skin and sex reversal (PKKSCC). This recessive syndrome is characterized by XX (female to male) SRY-independent sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Belongs to the R-spondin family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; Cell adhesion; Secreted, signal peptide; Cell development/differentiation

Chromosomal Location of Human Ortholog: 1p34.3

Cellular Component: extracellular space; extracellular region; nucleus

Molecular Function: heparin binding; protein binding; G-protein-coupled receptor binding; receptor binding

Biological Process: regulation of gene expression; regulation of receptor internalization; Wnt receptor signaling pathway through beta-catenin; positive regulation of protein amino acid phosphorylation; male meiosis; positive regulation of Wnt receptor signaling pathway

Disease: Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,xx Sex Reversal