Article
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
American journal of human genetics - 5 Oct 2012
Schrauwen Isabelle, Helfmann Sarah, Inagaki Akira, Predoehl Friederike, Tabatabaiefar Mohammad Amin, Picher Maria Magdalena, Sommen Manou, Zazo Seco Celia, Oostrik Jaap, Kremer Hannie, Dheedene Annelies, Claes Charlotte, Fransen Erik, Chaleshtori Morteza Hashemzadeh, Coucke Paul, Lee Amy, Moser Tobias, Van Camp Guy
Abstract excerpt
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...
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