UPK3A
Description
The UPK3A (uroplakin 3A) is a protein-coding gene located on chromosome 22.
UPK3A encodes the protein uroplakin-3a (UP3a), which is found in the inner membrane of the urinary bladder, contributing to its strength and ability to stretch. It is also found in the renal pelvis, ureter, and prostatic urethra.
UPK3A is a component of the asymmetric unit membrane (AUM), a specialized membrane found in urothelial cells. It contributes to the interaction between the AUM and the cytoskeleton in these cells, and may play a role in forming the urothelial glycocalyx, which helps prevent bacterial adherence.
UPK3A is also known as UP3A, UPIII, UPIIIA, UPK3.
Associated Diseases
- renal agenesis, unilateral
- renal hypodysplasia/aplasia 1
- congenital anomalies of kidney and urinary tract 1
- bacterial urinary tract infection
- familial juvenile hyperuricemic nephropathy type 1
- Ochoa syndrome
- multicystic dysplastic kidney
- hypoxanthine guanine phosphoribosyltransferase partial deficiency
- nephronophthisis
- familial vesicoureteral reflux
- xanthinuria type II
- primary hyperoxaluria type 3
- karyomegalic interstitial nephritis
- adenine phosphoribosyltransferase deficiency
