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Protein Page:
USH1G (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: Cytoskeletal protein
Cellular Component: plasma membrane; cytosol; actin cytoskeleton
Molecular Function: protein binding; protein homodimerization activity; spectrin binding
Biological Process: inner ear morphogenesis; sensory perception of sound; inner ear receptor cell differentiation; sensory perception of light stimulus; photoreceptor cell maintenance; equilibrioception
Reference #:  Q495M9 (UniProtKB)
Alt. Names/Synonyms: ANKS4A; FLJ33924; SANS; Scaffold protein containing ankyrin repeats and SAM domain; USH1G; Usher syndrome 1G (autosomal recessive); Usher syndrome type-1G protein
Gene Symbols: USH1G
Molecular weight: 51,489 Da
Basal Isoelectric point: 6.48  Predict pI for various phosphorylation states
Select Structure to View Below

USH1G

Protein Structure Not Found.


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