| Gene Symbol | RSPO4 |
| Entrez Gene ID | 343637 |
| Full Name | R-spondin 4 |
| Synonyms | C20orf182,CRISTIN4 |
| General protein information |
|
| 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) |
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