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{{STRUCTURE_2yrz| PDB=2yrz | SCENE= }} | {{STRUCTURE_2yrz| PDB=2yrz | SCENE= }} | ||
===Solution structure of the fibronectin type III domain of human Integrin beta-4=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN]] Defects in ITGB4 are a cause of epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:[http://omim.org/entry/226730 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.<ref>PMID:9792864</ref><ref>PMID:9422533</ref><ref>PMID:9546354</ref><ref>PMID:9892956</ref><ref>PMID:10873890</ref><ref>PMID:11251584</ref><ref>PMID:11328943</ref> Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:[http://omim.org/entry/226650 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.<ref>PMID:10792571</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN]] Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility.<ref>PMID:12482924</ref><ref>PMID:19403692</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==See Also== | ==See Also== | ||
*[[Integrin|Integrin]] | *[[Integrin|Integrin]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Abe, H.]] | [[Category: Abe, H.]] | ||