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PCDH15
Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function. Defects in PCDH15 are the cause of Usher syndrome type 1F (USH1F). 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 PCDH15 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 PCDH15 are the cause of deafness autosomal recessive type 23 (DFNB23). DFNB23 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. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: Membrane protein, integral; Cell development/differentiation; Cell adhesion |
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Cellular Component: extracellular space; stereocilium; photoreceptor outer segment; membrane; cytoplasm; plasma membrane; integral to membrane; synapse
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Molecular Function: protein binding; calcium ion binding
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Biological Process: startle response; adult locomotory behavior; righting reflex; multicellular organism growth; photoreceptor cell maintenance; actin filament organization; auditory receptor cell differentiation; locomotory behavior; detection of mechanical stimulus involved in sensory perception of sound; adult walking behavior; detection of mechanical stimulus involved in equilibrioception; sensory perception of sound; visual perception; sensory cilium biogenesis; sensory perception of light stimulus; morphogenesis of an epithelium; auditory receptor cell stereocilium organization and biogenesis; homophilic cell adhesion; cell adhesion; equilibrioception; inner ear development
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Reference #:
Q99PJ1 (UniProtKB)
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| Alt. Names/Synonyms: Ames waltzer; av; BB078305; ENSMUSG00000046980; Gm9815; nmf19; PCD15; Pcdh15; protocadherin 15; Protocadherin-15; Ush1f |
| Gene Symbols: Pcdh15 |
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Molecular weight: 214,787 Da
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Basal Isoelectric point: 5.02
Predict pI for various phosphorylation states
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