Ontology highlight
ABSTRACT:
SUBMITTER: Jaiganesh A
PROVIDER: S-EPMC6375707 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Jaiganesh Avinash A De-la-Torre Pedro P Patel Aniket A AA Termine Domenic J DJ Velez-Cortes Florencia F Chen Conghui C Sotomayor Marcos M
Structure (London, England : 1993) 20180719 9
Cadherin-23 (CDH23) is an essential component of hair-cell tip links, fine filaments that mediate inner-ear mechanotransduction. The extracellular domain of CDH23 forms about three-fourths of the tip link with 27 extracellular cadherin (EC) repeats that are structurally similar but not identical to each other. Calcium (Ca<sup>2+</sup>) coordination at the EC linker regions is key for tip-link elasticity and function. There are ∼116 sites in CDH23 affected by deafness-causing mutations, many of w ...[more]