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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]
[中文简述(自动翻译):]  硬化蛋白是分泌的糖蛋白具有C-末端半胱氨酸结状(CTCK)结构域和序列相似性的DAN(在神经母细胞瘤差异筛选选择的基因aberrative)家族的骨形态发生蛋白(BMP)的拮抗剂。在该基因失功能突变与常染色体隐性病症,sclerosteosis,这会导致渐进骨过度生长相关联。该基因下游的缺失,从而导致降低硬化的表达,与所谓的面包车Buchem疾病障碍的温和的形式有关。 [由RefSeq的,2008年7月提供]
SOST基因(以及对应的蛋白质)的细胞分布位置:
SOST基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Sclerosteosis | 0.563800186 | 14 | 3 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder) | 0.240271442 | 1 | 1 | BeFree_CLINVAR_UNIPROT |
| Craniodiaphyseal dysplasia | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
| Osteochondrodysplasias | 0.12 | 0 | 0 | CTD_human |
| Van Buchem disease | 0.08434307 | 16 | 0 | BeFree_MGD |
| Osteoporosis | 0.016349983 | 16 | 0 | BeFree_GAD_LHGDN |
| Bone Diseases | 0.00408156 | 5 | 0 | BeFree_LHGDN |
| Degenerative polyarthritis | 0.003181358 | 4 | 0 | BeFree_GAD |
| Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Osteoarthritis, Knee | 0.002638474 | 2 | 0 | BeFree_GAD |
| Osteoarthritis of hip | 0.002367032 | 1 | 0 | GAD |
| Bone Diseases, Developmental | 0.001628651 | 6 | 0 | BeFree |
| Hyperostosis | 0.001628651 | 6 | 0 | BeFree |
| Osteosarcoma | 0.000542884 | 2 | 0 | BeFree |
| Syndactyly | 0.000542884 | 2 | 0 | BeFree |
| Osteosarcoma of bone | 0.000542884 | 2 | 0 | BeFree |
| OVERLAP CONNECTIVE TISSUE DISEASE | 0.000542884 | 2 | 0 | BeFree |
| Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
| Diabetes | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
| Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
| Osteitis Deformans | 0.000271442 | 1 | 0 | BeFree |
| Osteopetrosis | 0.000271442 | 1 | 0 | BeFree |
| Intervertebral Disc Degeneration | 0.000271442 | 1 | 0 | BeFree |
| Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
| Worth disease | 0.000271442 | 1 | 0 | BeFree |
| Spondylarthritis | 0.000271442 | 1 | 0 | BeFree |
| Osteoarthritis, Spine | 0.000271442 | 1 | 0 | BeFree |
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