Mouse Anti-CDH23 Recombinant Antibody (EG590) (CBMAB-EN712-LY)

Cadherin Related 23

CDH23 (Cadherin Related 23) is a Protein Coding gene. Diseases associated with CDH23 include Deafness, Autosomal Recessive 12 and Usher Syndrome, Type Id. Among its related pathways are ERK Signaling and S-1P Stimulated Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is FAT3.

Cadherin Related 23; Cadherin-Related Family Member 23; Cadherin-Like 23; Otocadherin; Cadherin-23; KIAA1774;

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.

Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules Source: UniProtKB
Calcium ion transport Source: DFLAT
Cell-cell adhesion via plasma-membrane adhesion molecules Source: GO_Central
Equilibrioception Source: HGNC-UCL
Homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
Inner ear receptor cell stereocilium organization Source: InterPro
Locomotory behavior Source: InterPro
Photoreceptor cell maintenance Source: HGNC-UCL
Regulation of cytosolic calcium ion concentration Source: DFLAT
Response to stimulus Source: UniProtKB-KW
Sensory perception of light stimulus Source: HGNC-UCL
Sensory perception of sound Source: HGNC-UCL
Visual perception Source: UniProtKB-KW

Cell membrane

Usher syndrome 1D (USH1D): USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with 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.
Usher syndrome 1D/F (USH1DF): USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.
Deafness, autosomal recessive, 12 (DFNB12): A form of non-syndromic 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.
Pituitary adenoma 5, multiple types (PITA5): A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported. The transmission pattern of familial PITA5 is consistent with autosomal dominant inheritance with reduced penetrance.

Extracellular: 24-3064
Helical: 3065-3085
Cytoplasmic: 3086-3354