Gene: ITGB4

Alternate names for this Gene: CD104|GP150

Gene Summary: Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: integrin subunit beta 4

Type of Gene: protein-coding

rs121912466 in ITGB4 gene and Adult junctional epidermolysis bullosa (disorder) PMID 10792571 2000 A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?

rs121912461 in ITGB4 gene and Epidermolysis bullosa with pyloric atresia PMID 9546354 1998 Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.

PMID 9892956 1998 Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.

PMID 9792864 1998 Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

PMID 10873890 2000 Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.

PMID 11328943 2001 Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.

PMID 11251584 2001 Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

PMID 9422533 1998 Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).

PMID 9546354 1998 Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.

PMID 9792864 1998 One of the patients with lethal EB-PA was a compound heterozygote for premature termination-codon mutations (C738X/4791delCA), whereas the other patient with a lethal variant was homozygous for a missense mutation involving a cysteine residue (C61Y).

rs820164 in ITGB4 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs820164 in ITGB4 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.