| Gene Symbol | SOST |
| Entrez Gene ID | 50964 |
| Full Name | sclerostin |
| Synonyms | CDD,DAND6,SOST1,VBCH |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]. |
| Disorder MIM: | |
| Disorder Html: | Sclerosteosis 1, 269500 (3); Van Buchem disease, 239100 (3); Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3) |
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