CDH23 Antibody – Rabbit Polyclonal

CDH23: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D). USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF). USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. Defects in CDH23 are the cause of deafness autosomal recessive type 12 (DFNB12). DFNB12 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 8 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Motility/polarity/chemotaxis; Cell adhesion

Chromosomal Location of Human Ortholog: 10q22.1

Cellular Component: integral to membrane; membrane; plasma membrane; stereocilium

Molecular Function: calcium ion binding; protein binding

Biological Process: calcium ion transport; calcium-dependent cell-cell adhesion; cytosolic calcium ion homeostasis; equilibrioception; homophilic cell adhesion; inner ear receptor stereocilium organization and biogenesis; locomotory behavior; photoreceptor cell maintenance; response to stimulus; sensory perception of light stimulus; sensory perception of sound; visual perception

Disease: Deafness, Autosomal Recessive 12; Usher Syndrome, Type Id