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) |