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FLASH GENE
Symbol UPK3A contributors: mct - updated : 12-03-2014
HGNC name uroplakin 3A
HGNC id 12580
ASSOCIATED DISORDERS
corresponding disease(s) RADP4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral        
loss of UPK3A expression is associated with marker of aggressive bladder cancer such as lymphovascular invasion, pathologic stage and grade
Susceptibility
Variant & Polymorphism
Candidate gene
  • mutation in the UPK3A gene may result in functional obstruction to fetal urine flow, leading to pertubed kidney development
  • potentially pathogenic mutation in patient with renal hypodysplasia
  • Marker
  • up-regulation of mRNA levels in vesicoureteral reflux patients is a potential application as a screening test for vesicoureteral reflux
  • from the diagnostic viewpoint, UPK3-delta4 is a potential marker for identifying nonulcerative interstitial cystitis
  • urine measurement of UPK3A is a sensitive marker for the detection of bladder cancer
  • Therapy target
  • gene therapy viral vectors driven by the uroplakin promoter would drive therapeutic gene expression in high-UPK3A-expressing transitional cell carcinoma (TCC) cells but not in aggressive low-UPK3A-expressing TCC cells
  • ANIMAL & CELL MODELS