Description
UPK3A belongs to the uroplakin-3 family. Uroplakins (UP) are key components of the urothelium. They are transmembrane proteins that pass the lipid bilayer once (UPII, UPIIIa, and UPIIIb) or four times (UPIa and UPIb; both belonging to the "tetraspanin" family). All have large luminal/extracellular domains, but only UPIIIa and UPIIIb have significant cytoplasmic portions in their C-termini. UPK3A is a highly specific and moderately sensitive immunohistochemical marker for primary and metastatic urothelial carcinomas. Mutations in this gene may be associated with renal adysplasia