Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Hu P et al. (2000) Ablation of uroplakin III gene results in small urothelial plaques, urothelial leakage, and vesicoureteral reflux. 
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| 2. |
Jiang S et al. (2004) Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity.
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| 3. |
Kelly H et al. (2005) Uroplakin III is not a major candidate gene for primary vesicoureteral reflux.
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| 4. |
Jenkins D et al. (2005) De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.
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| 5. |
Schönfelder EM et al. (2006) Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.
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| 6. |
Wu XR et al. (1994) Mammalian uroplakins. A group of highly conserved urothelial differentiation-related membrane proteins.
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| 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.
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| 8. |
Lobban ED et al. (1998) Uroplakin gene expression by normal and neoplastic human urothelium.
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| 9. |
Orphanet article Orphanet ID 268073
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| 10. |
NCBI article NCBI 7380
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| 11. |
OMIM.ORG article Omim 611559
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| 12. |
Wikipedia article Wikipedia EN (UPK3A)
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