Integrin, Beta-4

Alternative Names

  • ITGB4
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OMIM Number

147557

NCBI Gene ID

3691

Uniprot ID

P16144

Length

36,492 bases

No. of Exons

43

No. of isoforms

5

Protein Name

Integrin Beta-4

Molecular Mass

202167 Da

Amino Acid Count

1822

Genomic Location

chr17:75,721,338-75,757,818

Gene Map Locus
17q25.1

Description

Integrins are transmembrane receptor glycoproteins that play an important role in facilitating cell-cell and cell-matrix adhesion. The integrins, are structurally heterodimers, made up of different combinations of alpha and beta subunits. The ITGB4 gene codes for the Integrin Beta 4 Subunit protein. Along with an integrin alpha subunit, it forms the alpha6beta4 integrin, which is an important constituent of the epidermis. This protein plays an important role in strengthening and stabilizing the skin, in particular in holding the layers of the skin together. Not surprisingly therefore, mutations in the ITGB4 gene have been found to result in junctional epidermolysis bullosa with pyloric atresia (JEB-PA), in which patients present with a skin blistering and a life-threatening obstruction of the digestive tract.

Integrins also play a major role in the migration of cancer cells and their resistance to apoptosis. Mutations in ITGB4 are therefore, also implicated in the birth and progression of epithelial carcinomas.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000213.4:c.3941_3943delKuwaitchr17:75752321-75752323PathogenicEpidermolysis Bullosa Junctionalis with Pyloric AtresiaNG_007372.1:g.35886_35888del; NM_000213.4:c.3941_3943del; NP_000204.3:p.Ile1314del
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