UPK3
The asymmetric unit membrane (AUM) of mammalian bladder epithelium is believed to be involved in strengthening and stabilizing the urothelial apical surface, thus preventing the cells from rupturing during bladder distention. The major protein components of AUM are uroplakins (UPKs): UPK1A, UPK1B, UPK2, and UPK3.
Pathology
UPK3 germline mutations in r
- renal adysplasia (#15888565#)
- renal hypodysplasia (#16731295#)
References
Schonfelder EM, Knuppel T, Tasic V, Miljkovic P, Konrad M, Wuhl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S; ESCAPE Trial Group. Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans. Am J Kidney Dis. 2006 Jun;47(6):1004-12. PMID: #16731295#
Jenkins D, Bitner-Glindzicz M, Malcolm S, Hu CC, Allison J, Winyard PJ, Gullett AM, Thomas DF, Belk RA, Feather SA, Sun TT, Woolf AS. De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. J Am Soc Nephrol. 2005 Jul;16(7):2141-9. PMID: #15888565#