Disease:Defects in UPK3A are a cause of renal adysplasia [MIM:191830]; also known as renal agenesis or renal aplasia. Renal agenesis refers to the absence of one (unilateral) or both (bilateral) kidneys at birth. Bilateral renal agenesis belongs to a group of perinatally lethal renal diseases, including severe bilateral renal dysplasia, unilateral renal agenesis with contralateral dysplasia and severe obstructive uropathy.,Function:Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence.,similarity:Belongs to the uroplakin-3 family.,subcellular location:Heterodimer formation with UPK1B is a prerequisite to exit out of the endoplasmic reticulum (ER).,subunit:Heterodimer with uroplakin-1B (UPK1B).,tissue specificity:Expressed in ureter.,
展开内容