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USH2A Involved in hearing and vision. Defects in USH2A are the cause of Usher syndrome type 2A (USH2A). 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). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. Defects in USH2A are the cause of retinitis pigmentosa type 39 (RP39). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP39 inheritance is autosomal recessive. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell adhesion; Membrane protein, integral; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 1q41
Cellular Component: apical plasma membrane; basement membrane; cytoplasm; stereocilium bundle
Molecular Function: collagen binding; myosin binding; protein binding
Biological Process: hair cell differentiation; inner ear receptor cell differentiation; maintenance of organ identity; photoreceptor cell maintenance; sensory perception of light stimulus; sensory perception of sound
Disease: Retinitis Pigmentosa 39; Usher Syndrome, Type Iia
Reference #:  O75445 (UniProtKB)
Alt. Names/Synonyms: dJ1111A8.1; RP39; US2; USH2; USH2A; Usher syndrome 2A (autosomal recessive, mild); Usher syndrome type IIa protein; Usher syndrome type-2A protein; Usherin
Gene Symbols: USH2A
Molecular weight: 575,600 Da
Basal Isoelectric point: 6.4  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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