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Function
Integrin alpha-6/beta-4 is a receptor for laminin. It plays a critical structural role in the hemidesmosome of epithelial cells.
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Tissue specificity
Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen and stomach.
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Involvement in disease
Defects in ITGB4 are a cause of epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]; also known as junctional epidermolysis bullosa with pyloric atresia (PA-JEB) or aplasia cutis congenita with gastrointestinal atresia. EB-PA is an autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa.
Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]. GABEB is a non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.
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Sequence similarities
Belongs to the integrin beta chain family.
Contains 1 Calx-beta domain.
Contains 4 fibronectin type-III domains.
Contains 1 PSI domain.
Contains 1 VWFA domain.
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Domain
The fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230.
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Cellular localization
Membrane.
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Information by UniProt
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Database links
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Alternative names
- CD 104 antibody
- CD104 antibody
- CD104 antigen antibody
- gp150 antibody
- Integrin beta 4 subunit antibody
- Integrin beta-4 antibody
- ITB4_HUMAN antibody
- ITG B4 antibody
- ITGB 4 antibody
- Itgb4 antibody
see all