Usher Syndrome Type-1g (USH1G) ELISA Kit for Mouse

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with combined auditory and vision loss. [provided by RefSeq, Sep 2015]

USH1G: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Defects in USH1G are the cause of Usher syndrome type 1G (USH1G). 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.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 11 E2|11 80.84 cM

Cellular Component: actin cytoskeleton; cytoplasm; cytoskeleton; membrane; photoreceptor connecting cilium; photoreceptor inner segment; plasma membrane

Molecular Function: protein binding; protein homodimerization activity; spectrin binding

Biological Process: equilibrioception; inner ear morphogenesis; inner ear receptor cell differentiation; inner ear receptor stereocilium organization and biogenesis; photoreceptor cell maintenance; sensory perception of light stimulus; sensory perception of sound