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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. Note: This description may include information from UniProtKB.
Protein type: Cell development/differentiation; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 20p13
Cellular Component: extracellular region
Disease: Nail Disorder, Nonsyndromic Congenital, 4
Reference #:  Q2I0M5 (UniProtKB)
Alt. Names/Synonyms: C20orf182; CRISTIN4; FLJ16018; hRspo4; R-spondin family, member 4; R-spondin-4; Roof plate-specific spondin-4; RSPO4
Gene Symbols: RSPO4
Molecular weight: 26,171 Da
Basal Isoelectric point: 9.38  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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