Uroplakin 3A
The UPK3A gene encodes a component of uroplakin, a complex of transmembrane proteins found on the apical surface of the urothelium, the epithelium specific to the urinary tract. Mutations were associated with autosomal dominant urogenital adysplasia.
Genetests:
Related Diseases:
References:
1. |
Hu P et al. (2000) Ablation of uroplakin III gene results in small urothelial plaques, urothelial leakage, and vesicoureteral reflux.
|
2. |
Jiang S et al. (2004) Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity.
|
3. |
Kelly H et al. (2005) Uroplakin III is not a major candidate gene for primary vesicoureteral reflux.
|
4. |
Jenkins D et al. (2005) De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.
|
5. |
Schönfelder EM et al. (2006) Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.
|
6. |
Wu XR et al. (1994) Mammalian uroplakins. A group of highly conserved urothelial differentiation-related membrane proteins.
|
7. |
Yuasa T et al. (1998) Expression of uroplakin Ib and uroplakin III genes in tissues and peripheral blood of patients with transitional cell carcinoma.
|
8. |
Lobban ED et al. (1998) Uroplakin gene expression by normal and neoplastic human urothelium.
|
9. |
Orphanet article
Orphanet ID 268073
|
10. |
NCBI article
NCBI 7380
|
11. |
OMIM.ORG article
Omim 611559
|
12. |
Wikipedia article
Wikipedia EN (UPK3A)
|
Update: Aug. 14, 2020