GENETIC ENCYCLOPEDIA
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gene: ITGB8

id3696
symbolITGB8
organismHomo sapiens
full nameintegrin subunit beta 8
summaryThis gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
variant-disease

GRCh37/hg19 7p21.1(chr7:20381673-20710582)x3 AND not provided

GRCh37/hg19 7p21.1-15.3(chr7:19173971-21399377)x3 AND not provided

GRCh38/hg38 7p21.1(chr7:19178547-20733512)x3 AND See cases

GRCh38/hg38 7p21.1(chr7:18660228-20666885)x3 AND See cases

GRCh38/hg38 7p21.1-15.3(chr7:18505390-21417733)x1 AND See cases

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