Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

Genetests:

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
ITGB4

References:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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.

external link
7.

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

external link
8.

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?

external link
9.

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.

external link
10.

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.

external link
11.

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

external link
12.

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

external link
13.

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.

external link
14.

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

external link
15.

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.

external link
16.

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

external link
17.

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

external link
18.

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.

external link
19.

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.

external link
20.

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.

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

NCBI article

NCBI 3691 external link
25.

OMIM.ORG article

Omim 147557 external link
26.

Orphanet article

Orphanet ID 122708 external link
27.

Wikipedia article

Wikipedia EN (Integrin_beta_4) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits