Overview

whirlin


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A protein (CASK-interacting protein, CIP98 907 aa) localized to the tips of stereocilia. In brain interacts with a calmodulin-dependent serine kinase (CASK, one of the membrane-associated guanylate kinase (MAGUK) family), colocalizes with CASK along the dendritic processes of neurons and may be involved in the formation of scaffolding protein complexes that facilitate synaptic transmission in the central nervous system. Mutations in the gene for whirlin cause Usher's syndrome (type 2D) and autosomal recessive nonsyndromic deafness-31. The gene was originally identified in the mouse whirler mutant.

Subjects: Medicine and Health.


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