Gene Symbol: Pdzd7
Description: PDZ domain containing 7
Alias: 9130207N01, EG435601, Pdzk7, PDZ domain-containing protein 7
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 ..
Zou J, Chen Q, Almishaal A, Mathur P, Zheng T, Tian C, et al
. The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells. Hum Mol Genet. 2017;26:624-636 pubmed publisher
..The protein products of USH2 causative and modifier genes, USH2A, ADGRV1, WHRN and PDZD7, interact to assemble a multiprotein complex at the ankle link region of the mechanosensitive stereociliary bundle ..
Schneider E, Märker T, Daser A, Frey Mahn G, Beyer V, Farcas R, et al
. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. Hum Mol Genet. 2009;18:655-66 pubmed publisher
..The chromosome 10 breakpoint was identified within the PDZ domain containing 7 (PDZD7) gene, disrupting the open reading frame of transcript PDZD7-C (without PDZ domain) and the 5'-untranslated region ..
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...
Zou J, Mathur P, Zheng T, Wang Y, Almishaal A, Park A, et al
. Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle. Hum Mol Genet. 2015;24:6944-57 pubmed publisher
..Our thorough phenotypical characterization of USH2 mouse models is essential for future use of these animal models in therapeutic development. ..
Morgan C, Krey J, Grati M, Zhao B, Fallen S, Kannan Sundhari A, et al
. PDZD7-MYO7A complex identified in enriched stereocilia membranes. elife. 2016;5: pubmed publisher
..identification and quantitation of proteins with mass spectrometry, we demonstrate that MYO7A forms a complex with PDZD7, a paralog of USH1C and DFNB31...