GENETIC ENCYCLOPEDIA
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gene: ITGA1

id3672
symbolITGA1
organismHomo sapiens
full nameintegrin subunit alpha 1
summaryThis gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]
variant-disease

GRCh37/hg19 5q11.2(chr5:51972277-52091647)x3 AND not provided

GRCh37/hg19 5q11.2(chr5:50824656-53452371)x1 AND See cases

GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 AND See cases

GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1 AND See cases

GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 AND See cases

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