DFNB31: Proteins and Enzymes

DFNB31 (deafness autosomal recessive 31) is a PDZ scaffold protein which is necessary for elongation and maintenance of stereocilia in the inner and outer hair cells in the organ of Corti in the inner ear. It is also expressed in retinal photoreceptor cells. Mutations in this gene, also known as Whirlin, are associated with non syndromic sensorineural deafness autosomal recessive type 31 and retinitis pigmentosa. DFNB31 interacts with a calmodulin dependent serine kinase, CASK, and may be involved in the formation of scaffolding protein complexes that facilitate synaptic transmission in the central nervous system.