RSPO4 Antibody – Rabbit Polyclonal

This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

R-spondin-4: 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. Defects in RSPO4 are the cause of nail disorder non- syndromic congenital type 4 (NDNC4). A nail disorder characterized by congenital anonychia or its milder phenotypic variant hyponychia. Anonychia/hyponychia is the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies. Belongs to the R-spondin family. 2 isoforms of the human protein are produced by alternative splicing.

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

Chromosomal Location of Human Ortholog: 20p13

Cellular Component: extracellular space; extracellular region

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

Biological Process: Wnt receptor signaling pathway

Disease: Nail Disorder, Nonsyndromic Congenital, 4