Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Integrin beta-4

The ITGB4 gene encodes a membrane protein that like all integrins is involved in cell adhesion and signal transduction. Mutations cause autosomal dominant and recessive epidermolysis bullosa.


Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Epidermolysis bullosa



Carmi R et al. (1982) Aplasia cutis congenita in two sibs discordant for pyloric atresia.


Vidal F et al. (1995) Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.


Maman E et al. (1998) Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease.


Pulkkinen L et al. (1998) Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.


Chavanas S et al. (1999) Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.


Birnbaum RY et al. (2008) Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.


Hogervorst F et al. (1991) Molecular cloning of the human alpha 6 integrin subunit. Alternative splicing of alpha 6 mRNA and chromosomal localization of the alpha 6 and beta 4 genes.


Suzuki S et al. (1990) Amino acid sequence of a novel integrin beta 4 subunit and primary expression of the mRNA in epithelial cells.


Hogervorst F et al. (1990) Cloning and sequence analysis of beta-4 cDNA: an integrin subunit that contains a unique 118 kd cytoplasmic domain.


Niessen CM et al. (1997) Integrin alpha 6 beta 4 forms a complex with the cytoskeletal protein HD1 and induces its redistribution in transfected COS-7 cells.


Shaw LM et al. (1997) Activation of phosphoinositide 3-OH kinase by the alpha6beta4 integrin promotes carcinoma invasion.


Pulkkinen L et al. (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.


Nievers MG et al. (1998) Ligand-independent role of the beta 4 integrin subunit in the formation of hemidesmosomes.


Murgia C et al. (1998) Cell cycle and adhesion defects in mice carrying a targeted deletion of the integrin beta4 cytoplasmic domain.


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


Geerts D et al. (1999) Binding of integrin alpha6beta4 to plectin prevents plectin association with F-actin but does not interfere with intermediate filament binding.


Inoue M et al. (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?


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


Koster J et al. (2001) Two different mutations in the cytoplasmic domain of the integrin beta 4 subunit in nonlethal forms of epidermolysis bullosa prevent interaction of beta 4 with plectin.


Jonkman MF et al. (2002) Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.


Dajee M et al. (2003) NF-kappaB blockade and oncogenic Ras trigger invasive human epidermal neoplasia.


Guo W et al. (2006) Beta 4 integrin amplifies ErbB2 signaling to promote mammary tumorigenesis.


Yang L et al. (2008) Unbiased screening for transcriptional targets of ZKSCAN3 identifies integrin beta 4 and vascular endothelial growth factor as downstream targets.


NCBI article

NCBI 3691 [^]

OMIM.ORG article

Omim 147557 [^]

Orphanet article

Orphanet ID 122708 [^]

Wikipedia article

Wikipedia EN (Integrin_beta_4) [^]
Update: April 29, 2019