Uroplakin 3A
Das UPK3A-Gen kodiert eine Komponente des Uroplakin, ein Komplex von transmembranösen Proteinen die sich auf dem Urothel, dem Übergangsepithel der ableitenden Harnwege, befindet. Mutationen werdenmit der autosomal dominanten urogenitalen Adysplasie in Verbindung gebracht.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020