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FLASH GENE
Symbol PDZK1 contributors: mct/shn - updated : 15-07-2015
HGNC name PDZ domain containing 1
HGNC id 8821
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in estrogen-responsive breast cancer
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • PDZK1-deficient mice developed normally, did not display any gross phenotypic abnormalities, and were fecund, lack of PDZK1 resulted in modulation of expression of selective ion channels in the kidney, as well as increased serum cholesterol levels
  • SR-BI protein expression in PDZK1 knock-out (KO) mice was reduced by 95% in the liver, 50% in the proximal intestine, and not affected in steroidogenic organs
  • the ratio of unesterified to total plasma cholesterol was normal, females were fertile, and cholesteryl ester stores in steroidogenic organs were essentially unaffected in PDZK1 KO mice
  • inactivation of the Pdzk1 gene promotes the development of aortic root atherosclerosis in apolipoprotein E KO mice fed with a high fat/high cholesterol diet
  • Pdzk1-/- mice adapted to chronic low Pi diets showed an increased expression of SLC34A1 protein in the apical membrane of proximal tubules but impaired up-regulation of SLC34A3