🧬 基因注释：SOST
📝 官方信息
官方名称：sclerostin
功能摘要：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].
🎯 作为靶基因的剪接因子
- SRSF3 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录