Ontology highlight
ABSTRACT:
SUBMITTER: Schrauwen I
PROVIDER: S-EPMC3484643 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Schrauwen Isabelle I Helfmann Sarah S Inagaki Akira A Predoehl Friederike F Tabatabaiefar Mohammad Amin MA Picher Maria Magdalena MM Sommen Manou M Zazo Seco Celia C Oostrik Jaap J Kremer Hannie H Dheedene Annelies A Claes Charlotte C Fransen Erik E Chaleshtori Morteza Hashemzadeh MH Coucke Paul P Lee Amy A Moser Tobias T Van Camp Guy G
American journal of human genetics 20120913 4
CaBPs are a family of Ca(2+)-binding proteins related to calmodulin and are localized in the brain and sensory organs, including the retina and cochlea. Although their physiological roles are not yet fully elucidated, CaBPs modulate Ca(2+) signaling through effectors such as voltage-gated Ca(v) Ca(2+) channels. In this study, we identified a splice-site mutation (c.637+1G>T) in Ca(2+)-binding protein 2 (CABP2) in three consanguineous Iranian families affected by moderate-to-severe hearing loss. ...[more]