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Protein Page:
USH1G (human)

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
Chromosomal Location of Human Ortholog: 17q25.1
Cellular Component: actin cytoskeleton
Molecular Function: protein binding; spectrin binding
Biological Process: equilibrioception; photoreceptor cell maintenance; sensory perception of light stimulus; sensory perception of sound
Disease: Usher Syndrome, Type Ig
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
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Protein Structure Not Found.
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