GENETIC ENCYCLOPEDIA
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gene: ITGA8

id8516
symbolITGA8
organismHomo sapiens
full nameintegrin subunit alpha 8
summaryIntegrins 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]
variant-disease

NM_003638.3(ITGA8):c.764C>T (p.Thr255Met) AND not provided

NM_003638.3(ITGA8):c.2174dup (p.Cys726fs) AND not provided

NM_003638.3(ITGA8):c.537C>A (p.Ser179Arg) AND Renal adysplasia

GRCh37/hg19 10p13(chr10:15646126-15805171)x3 AND not provided

NM_003638.3(ITGA8):c.404G>A (p.Trp135Ter) AND not provided

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