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This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
[中文简述(自动翻译):]  这个基因编码属于肽酶M12A家族的虾红素样,锌依赖性,金属蛋白酶。这种蛋白酶处理胶原C-前肽,如脊索亲聚糖和亲赖氨酰氧化。在小鼠中的研究表明,这种基因在哺乳动物心脏的发展多种作用,并为室间隔的形成是必不可少的。这种基因的等位基因变异与房间隔缺损类型相关联6.选择性剪接转录变异体编码不同亚型也发现了这种基因。 [由RefSeq的,2011年3月提供]
TLL1基因(以及对应的蛋白质)的细胞分布位置:
TLL1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Atrial Septal Defect 6 | 0.36 | 1 | 3 | CLINVAR_CTD_human_UNIPROT |
| Post-Traumatic Stress Disorder | 0.12 | 1 | 1 | GWASCAT |
| Ostium secundum atrial septal defect | 0.12 | 0 | 0 | ORPHANET |
| Ostium primum atrial septal defect | 0.12 | 0 | 0 | ORPHANET |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.000542884 | 2 | 1 | BeFree |
| Coronary Arteriosclerosis | 0.000271442 | 1 | 1 | BeFree |
| Coronary heart disease | 0.000271442 | 1 | 1 | BeFree |
| Osteogenesis Imperfecta | 0.000271442 | 1 | 0 | BeFree |
| Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
| Osteosarcoma of bone | 0.000271442 | 1 | 0 | BeFree |
| Coronary Artery Disease | 0.000271442 | 1 | 0 | BeFree |
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