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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:

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

Related Diseases:

Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A

References:

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 external link
10.

NCBI article

NCBI 7380 external link
11.

OMIM.ORG article

Omim 611559 external link
12.

Wikipedia article

Wikipedia EN (UPK3A) external link
Update: Aug. 14, 2020
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