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Integrins are heterodimeric transmembrane receptor proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Integrins are composed of alpha and beta subunits. This gene encodes the alpha 8 subunit of the heterodimeric integrin alpha8beta1 protein. The encoded protein is a single-pass type 1 membrane protein that contains multiple FG-GAP repeats. This repeat is predicted to fold into a beta propeller structure. This gene regulates the recruitment of mesenchymal cells into epithelial structures, mediates cell-cell interactions, and regulates neurite outgrowth of sensory and motor neurons. The integrin alpha8beta1 protein thus plays an important role in wound-healing and organogenesis. Mutations in this gene have been associated with renal hypodysplasia/aplasia-1 (RHDA1) and with several animal models of chronic kidney disease. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]
[中文简述(自动翻译):]  整合素是介导多种细胞过程,包括细胞粘着,细胞骨架重排和细胞??信号传导途径的活化的异源二聚体跨膜受体蛋白。整合素是由α和β亚基组成。该基因编码的异源二聚体整联alpha8beta1蛋白的α8亚基。所编码的蛋白质是包含多个FG-GAP重复单遍1型膜蛋白。这种重复预计折叠成一个beta螺旋桨结构。该基因调控的间充质细胞的募集到上皮结构,介导细胞 - 细胞相互作用,并调节感觉和运动神经元的神经突增生。因而整alpha8beta1蛋白在伤口愈合和器官发生中起重要作用。在这个基因的突变已与相关的肾功能hypodysplasia /发育不全-1(RHDA1)和慢性肾脏疾病的几种动物模型。在多个备选的转录剪接变异体结果不同编码的亚型。 [由RefSeq的,2014年4月提供]
ITGA8基因(以及对应的蛋白质)的细胞分布位置:
ITGA8基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
RENAL ADYSPLASIA | 0.24 | 1 | 3 | CLINVAR_UNIPROT |
Congenital absence of kidneys syndrome | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
Stomach Neoplasms | 0.12 | 1 | 0 | CTD_human |
ovarian neoplasm | 0.12 | 1 | 0 | CTD_human |
Polycystic Kidney, Autosomal Dominant | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
Parkinson Disease | 0.002367032 | 1 | 1 | GAD |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
Schizophrenia | 0.000271442 | 1 | 0 | BeFree |
Cardiac fibrosis | 0.000271442 | 1 | 0 | BeFree |
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