Usherin (USH2A) ELISA Kit for Mouse

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.

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

Chromosomal Location of Human Ortholog: 1 H6|1 92.29 cM

Cellular Component: apical plasma membrane; basement membrane; cell projection; cell soma; cytoplasm; extracellular region; integral component of membrane; membrane; photoreceptor connecting cilium; photoreceptor inner segment; plasma membrane; stereocilium; stereocilium bundle; synapse; terminal bouton

Molecular Function: collagen binding; myosin binding; protein binding; protein homodimerization activity

Biological Process: establishment of protein localization; hair cell differentiation; inner ear receptor cell differentiation; maintenance of animal organ identity; photoreceptor cell maintenance; response to stimulus; sensory perception of light stimulus; sensory perception of sound; visual perception