Gene Symbol | RSPO4 |
Entrez Gene ID | 343637 |
Full Name | R-spondin 4 |
Synonyms | C20orf182,CRISTIN4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Anonychia congenita, 206800 (3) |