For
chromosome 20, R-spondin 4 is a
protein in humans that is encoded by the RSPO4
gene.
[1]
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. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009].
Chishti, M. S.; Kausar, N.; Rafiq, M. A.; Amin, M.; Ahmad, W. (2007). "A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family". British Journal of Dermatology. 158 (3): 621–623.
doi:
10.1111/j.1365-2133.2007.08365.x.
PMID18070203.
S2CID42671434.
Blaydon, D. C.; Ishii, Y.; O'Toole, E. A.; Unsworth, H. C.; Teh, M. T.; Rüschendorf, F.; Sinclair, C.; Hopsu-Havu, V. I. K.; Tidman, N.; Moss, C.; Watson, R.; De Berker, D.; Wajid, M.; Christiano, A. M.; Kelsell, D. P. (2006). "The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia". Nature Genetics. 38 (11): 1245–1247.
doi:
10.1038/ng1883.
PMID17041604.
S2CID23404430.
Seitz, C. S.; Van Steensel, M.; Frank, J.; Senderek, J.; Zerres, K.; Hamm, H.; Bergmann, C. (2007). "The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects". British Journal of Dermatology. 157 (4): 801–802.
doi:
10.1111/j.1365-2133.2007.08059.x.
PMID17596144.
S2CID873173.
For
chromosome 20, R-spondin 4 is a
protein in humans that is encoded by the RSPO4
gene.
[1]
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. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009].
Chishti, M. S.; Kausar, N.; Rafiq, M. A.; Amin, M.; Ahmad, W. (2007). "A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family". British Journal of Dermatology. 158 (3): 621–623.
doi:
10.1111/j.1365-2133.2007.08365.x.
PMID18070203.
S2CID42671434.
Blaydon, D. C.; Ishii, Y.; O'Toole, E. A.; Unsworth, H. C.; Teh, M. T.; Rüschendorf, F.; Sinclair, C.; Hopsu-Havu, V. I. K.; Tidman, N.; Moss, C.; Watson, R.; De Berker, D.; Wajid, M.; Christiano, A. M.; Kelsell, D. P. (2006). "The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia". Nature Genetics. 38 (11): 1245–1247.
doi:
10.1038/ng1883.
PMID17041604.
S2CID23404430.
Seitz, C. S.; Van Steensel, M.; Frank, J.; Senderek, J.; Zerres, K.; Hamm, H.; Bergmann, C. (2007). "The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects". British Journal of Dermatology. 157 (4): 801–802.
doi:
10.1111/j.1365-2133.2007.08059.x.
PMID17596144.
S2CID873173.