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Details on Person UniProt:Q99PF4-4 Cdh23
| Class:Id | ReferenceIsoform:9037172 |
|---|---|
| _displayName | UniProt:Q99PF4-4 Cdh23 |
| _timestamp | 2023-11-03 16:50:57 |
| chain | signal peptide:1-23 chain:24-3354 |
| checksum | 6ADFABF6A5001DC0 |
| comment | FUNCTION 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.SUBUNIT Interacts with USH1C and USH1G (By similarity). antiparallel heterodimer with PCDH15. Isoform C1: Interacts with CAMSAP3; leading to inhibit CAMSAP3 ability to induce microtubule bundle formation (PubMed:27349180).INTERACTION In adult animals relatively high levels of expression are found in testis, skeletal muscle, heart, eye and thymus, and lower expression in kidney, lung and brain. Found in the sensory hair cells of the inner ear.DOMAIN Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.DOMAIN Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with PCDH15.DISEASE Defects in Cdh23 are the cause of waltzer (v) phenotype. Waltzer mice are characterized by deafness and vestibular dysfunction due to degeneration of the neuroepithelium within the inner ear. |
| created | [InstanceEdit:9037114] Weiser, JD |
| description | recommendedName: Cadherin-23 alternativeName: Otocadherin |
| geneName | Cdh23 |
| identifier | Q99PF4 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Calcium Cell adhesion Cell membrane Deafness Disease variant Glycoprotein Hearing Membrane Metal-binding Non-syndromic deafness Reference proteome Repeat Signal Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9715482] Weiser, JD [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 |
| name | Cdh23 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| secondaryIdentifier | CAD23_MOUSE E9QP63 Q5QGS3 Q5QGS4 Q5QGS7 Q5QGS8 Q99NH1 Q9D4N9 |
| sequenceLength | 3354 |
| species | [Species:48892] Mus musculus |
| variantIdentifier | Q99PF4-4 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q99PF4-4 Cdh23 (9037172)
