Pdzd7

Summary

Gene Symbol: Pdzd7
Description: PDZ domain containing 7
Alias: Pdzk7, PDZ domain-containing protein 7
Species: rat
Products:     Pdzd7

Top Publications

  1. Ebermann I, Phillips J, Liebau M, Koenekoop R, Schermer B, Lopez I, et al. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest. 2010;120:1812-23 pubmed publisher
    ..Here, we have determined that mutations in PDZ domain-containing 7 (PDZD7), which encodes a homolog of proteins mutated in Usher syndrome subtype 1C (USH1C) and USH2D, contribute to Usher ..
  2. Zou J, Zheng T, Ren C, Askew C, Liu X, Pan B, et al. Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. Hum Mol Genet. 2014;23:2374-90 pubmed publisher
    ..b>PDZD7, a paralog of two USH causative genes, USH1C and USH2D (WHRN), was recently reported to be implicated in USH2 and ..
  3. Chen Q, Zou J, Shen Z, Zhang W, Yang J. Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. J Biol Chem. 2014;289:36070-88 pubmed publisher
    ..USH2A, GPR98, and WHRN are three known causative genes of USH2, whereas PDZD7 is a modifier gene found in USH2 patients...