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 |
Related Diseases:
References:
1. |
Vidal F et al. (1995) Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.
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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.
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3. |
Guo W et al. (2006) Beta 4 integrin amplifies ErbB2 signaling to promote mammary tumorigenesis.
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4. |
Dajee M et al. (2003) NF-kappaB blockade and oncogenic Ras trigger invasive human epidermal neoplasia.
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5. |
Jonkman MF et al. (2002) Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.
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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.
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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.
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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?
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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.
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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.
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11. |
Murgia C et al. (1998) Cell cycle and adhesion defects in mice carrying a targeted deletion of the integrin beta4 cytoplasmic domain.
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12. |
Nievers MG et al. (1998) Ligand-independent role of the beta 4 integrin subunit in the formation of hemidesmosomes.
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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.
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14. |
Shaw LM et al. (1997) Activation of phosphoinositide 3-OH kinase by the alpha6beta4 integrin promotes carcinoma invasion.
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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.
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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.
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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.
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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.
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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.
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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.
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21. |
Pulkkinen L et al. (1998) Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.
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22. |
Maman E et al. (1998) Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease.
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23. |
Carmi R et al. (1982) Aplasia cutis congenita in two sibs discordant for pyloric atresia.
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24. |
NCBI article
NCBI 3691
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25. |
OMIM.ORG article
Omim 147557
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26. |
Orphanet article
Orphanet ID 122708
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27. |
Wikipedia article
Wikipedia EN (Integrin_beta_4)
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Update: Aug. 14, 2020