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This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]
[中文简述(自动翻译):]  该基因编码的软骨细胞外蛋白质,它是小富含亮氨酸的蛋白多糖家族的新成员。所编码的蛋白质可通过在软骨抑制转化生长因子-β1诱导的基因表达调节软骨形成。这种蛋白也结合胶原蛋白和钙,并可能诱发胶原矿化。在该基因的天冬氨酸重复区域多态性与易感性骨关节炎相关联,并且还与椎间盘疾病。在多个转录变异体这种基因的结果选择性剪接。[由RefSeq的,2014年7月提供]
ASPN基因(以及对应的蛋白质)的细胞分布位置:
ASPN基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Degenerative polyarthritis | 0.156891145 | 27 | 1 | BeFree_CTD_human_GAD_LHGDN |
Keloid | 0.12 | 1 | 0 | CTD_human |
Intervertebral disc disorder | 0.12 | 0 | 0 | CTD_human |
Osteoarthritis, Knee | 0.011996981 | 11 | 0 | BeFree_GAD_LHGDN |
Ankylosing spondylitis | 0.002638474 | 1 | 0 | BeFree_GAD |
Osteochondritis | 0.002367032 | 1 | 0 | GAD |
Osteoarthritis of hip | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Hip Dislocation, Congenital | 0.000271442 | 1 | 0 | BeFree |
Arthropathy | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Congenital torticollis | 0.000271442 | 1 | 0 | BeFree |
Intervertebral Disc Degeneration | 0.000271442 | 1 | 0 | BeFree |
Lumbar disc disease | 0.000271442 | 1 | 0 | BeFree |
Degeneration of lumbar intervertebral disc | 0.000271442 | 1 | 0 | BeFree |
Fibromatosis colli | 0.000271442 | 1 | 0 | BeFree |
Cancer Cell Growth | 0.000271442 | 1 | 0 | BeFree |
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