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This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码类型XII胶原蛋白的α链,该FACIT(原纤维相关的胶原蛋白与中断的三重螺旋)胶原家族的一个成员。式XII胶原蛋白是在用I型胶原,即认为是修改I型胶原原纤维和周围的基体之间的相互作用的关联的关联发现同三聚体。编码不同同种型的可变剪接转录物变体也已确定。 [由RefSeq的,2008年7月提供]
COL12A1基因(以及对应的蛋白质)的细胞分布位置:
COL12A1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Bethlem myopathy | 0.12 | 0 | 0 | ORPHANET |
Exostoses | 0.00272435 | 1 | 0 | LHGDN |
Myopathy | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Ehlers-Danlos Syndrome | 0.000271442 | 1 | 0 | BeFree |
Herpes Simplex Infections | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Subungual exostoses | 0.000271442 | 1 | 0 | BeFree |
Chondromyxoid fibroma | 0.000271442 | 1 | 0 | BeFree |
Overlap syndrome | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Grip strength decreased | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
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