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This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
[中文简述(自动翻译):]  该基因编码Ⅷ型胶原蛋白的两个α链之一。该基因产物为短链胶原和角膜内皮的基底膜的主要组成部分。类型VIII胶原纤维可以是均聚物或异源。编码相同蛋白质可变剪接转录物变体已观察到。 [由RefSeq的,2011年12月提供]
COL8A1基因(以及对应的蛋白质)的细胞分布位置:
COL8A1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Age related macular degeneration | 0.122909916 | 4 | 3 | BeFree_GAD_GWASCAT |
Congenital Abnormality | 0.12 | 1 | 0 | CTD_human |
Glaucoma, Open-Angle | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Corneal dystrophy | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 5 | BeFree |
Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
Fuchs Endothelial Dystrophy | 0.000271442 | 1 | 0 | BeFree |
Macular degeneration | 0.000271442 | 1 | 1 | BeFree |
Myopia | 0.000271442 | 1 | 0 | BeFree |
Retinal Diseases | 0.000271442 | 1 | 0 | BeFree |
Gilles de la Tourette syndrome | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
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