CD104 (integrin-beta 4, GP150, ITGB4)
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Function
- associates with integrin alpha 6 (integrin alpha-6/beta-4)
- signalling through the integrin beta-4 cytoplasmic domain may induce expression of p21WAF1/Cip1[2]
Structure
- the fibronectin type-III-like domains bind BPAG1 & plectin & probably also recruit BP230
- belongs to the integrin beta chain family
- contains 1 calx-beta domain
- contains 4 fibronectin F3 modules
- contains 1 VWFA domain
Compartment
membrane
Expression
- thymocytes, epithelial cells
- isoform beta-4D is also expressed in colon & placenta
- isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen & stomach
Pathology
- mutations associated with
- epidermolysis bullosa letalis with pyloric atresia (junctional epidermolysis bullosa with pyloric atresia or aplasia cutis congenita with gastrointestinal atresia)
- generalized atrophic benign epidermolysis bullosa
More general terms
Component of
References
- ↑ Clarke et al J Biol Chem 270:22673 1995
- ↑ 2.0 2.1 Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3691
- ↑ http://www.pathologyoutlines.com/cd100247.html 21 June 2005
- ↑ Uniprot http://www.uniprot.org/uniprot/P16144.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB4