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
Gene: GALK1
Alternate names for this Gene: GALK|GK1|HEL-S-19
Gene Summary: Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population.
Gene is located in Chromosome: 17
Location in Chromosome : 17q25.1
Description of this Gene: galactokinase 1
Type of Gene: protein-coding
rs111033608 in
ITGB4;GALK1 gene and
Deficiency of galactokinase
PMID 10790206 2000 Novel mutations in 13 probands with galactokinase deficiency.
PMID 10570908 1999 Molecular characterization of galactokinase deficiency in Japanese patients.
rs121912467 in
ITGB4;GALK1 gene and
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 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 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 9792864 1998 Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.