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. ,
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