Integrin, Alpha-6

Alternative Names

  • ITGA6
  • CD49F
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OMIM Number

147556

NCBI Gene ID

3655

Uniprot ID

P23229

Length

79,124 bases

No. of Exons

28

No. of isoforms

8

Protein Name

Integrin Alpha-6

Molecular Mass

126606 Da

Amino Acid Count

1130

Genomic Location

chr2:172,427,335-172,506,458

Gene Map Locus
2q31.1

Description

The integrin alpha-6 precursor consists of 1130 amino acids, and weighs about 127 kDa. It is found on a variety of epithelial cell types, mostly expressed on stratified squamous epithelia. The ITGA6 gene gives instructions for making the ?6 subunit of two proteins the alpha6beta4 integrin and the alpha6beta1 integrin. Integrins are integral cell-surface proteins composed of alpha chain and beta chain. Combinations of multiple chains result in different integrins. Integrins mediate interactions between adhesion molecules on adjacent cells and/or the extracellular matrix (ECM) and also transmit chemical signals that regulate cell growth and the activity of certain genes. alpha-6/beta-1 function as a receptor for laminin on platelets, while integrin alpha-6/beta-4 is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001079818.3:c.140C>TUnited Arab Emirateschr2:172427928PathogenicEpidermolysis Bullosa Junctionalis with Pyloric AtresiaNG_008853.1:g.5343C>T; NM_001079818.3:c.140C>T; NP_001073286.1:p.Ser47Leu1377038208
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