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ITGB6 integrin subunit beta 6

Gene ID: 3694, updated on 3-Nov-2024
Gene type: protein coding
Also known as: AI1H

Summary

This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Amelogenesis imperfecta type 1H
MedGen: C4015557OMIM: 616221GeneReviews: Not available
See labs
Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes.
GeneReviews: Not available
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
GeneReviews: Not available

Genomic context

Location:
2q24.2
Sequence:
Chromosome: 2; NC_000002.12 (160099671..160200272, complement)
Total number of exons:
16

Links

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