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RSPO4 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. Additionally we are shipping R-Spondin 4 Antibodies (23) and R-Spondin 4 Kits (2) and many more products for this protein.
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A novel nonsense mutation in RSPO4 gene involves in the development of anonychia congenita.
RSPO4 has a crucial role in nail (show CD244 Proteins) morphogenesis.
These findings expand our understanding of the role of RSPO4 in nail (show CD244 Proteins) development and disease.
The previously unknown mutations c.190C>T (p.Arg64Cys) in exon 2 and c.301C>T (p.Gln101X) in exon 3 were identified in RSPO4, thereby corroborating R-spondin 4 as the major protein in autosomal-recessive anonychia.
identification of a missense mutation c.199G > C (p.Gly67Arg) in the RSPO4 gene in a large consanguineous Pakistani family with an autosomal recessive form of anonychia
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.
R-spondin family, member 4
, roof plate-specific spondin-4
, R-spondin-like protein
, cysteine-rich and single thrombospondin domain-containing protein 4