Ontology highlight
ABSTRACT:
SUBMITTER: Diaz-Horta O
PROVIDER: S-EPMC6238639 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Diaz-Horta Oscar O Abad Clemer C Cengiz Filiz Basak FB Bademci Guney G Blackwelder Pat P Walz Katherina K Tekin Mustafa M
Journal of molecular medicine (Berlin, Germany) 20181003 11
RIPOR2 (previously known as FAM65B) localizes to stereocilia of auditory hair cells and causes deafness when its function is disturbed by mutations. Here, we demonstrate that during the morphogenesis of the hair cell bundle, absence of Ripor2 affects the orientation of this key subcellular structure. We show that Ripor2 interacts with Myh9, a protein encoded by a known deafness gene. Absence of Ripor2 is associated with low Myh9 abundance in the mouse cochlea despite increased amount of Myh9 tra ...[more]