Gene: ITGB6

Alternate names for this Gene: AI1H

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q24.2

Description of this Gene: integrin subunit beta 6

Type of Gene: protein-coding

rs140015315 in ITGB6 gene and AMELOGENESIS IMPERFECTA, TYPE IH PMID 24319098 2014 A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.

PMID 24305999 2014 ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

rs2925763 in ITGB6 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs4665156 in ITGB6 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2925763 in ITGB6 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.