UPK2
Description
The UPK2 (uroplakin 2) is a protein-coding gene located on chromosome 11.
Uroplakin-2 (UP2) is a protein encoded by the UPK2 gene in humans.
Uroplakin-2 (UP2) is a component of the asymmetric unit membrane (AUM), a specialized membrane found in terminally differentiated urothelial cells. UP2 may play a key role in the assembly of the AUM.
UPK2 is also known as UP2, UPII.
Associated Diseases
- Dent disease
- familial juvenile hyperuricemic nephropathy type 1
- hyperprolinemia type 1
- Ochoa syndrome
- nephronophthisis
- hypoxanthine guanine phosphoribosyltransferase partial deficiency
- multicystic dysplastic kidney
- ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- primary Fanconi syndrome
- xanthinuria type II
- Fanconi renotubular syndrome 1
- pentosuria
- adenine phosphoribosyltransferase deficiency
- congenital hydronephrosis
- saccharopinuria
- familial vesicoureteral reflux
- karyomegalic interstitial nephritis
- primary hyperoxaluria type 3
- congenital primary megaureter
- cystinuria
- hereditary renal hypouricemia
- breast cancer
