Entity Details

Primary name USH1G
Entity type gene
Source Source Link

Details

PrimaryID124590
RefseqGeneNG_007882
SymbolUSH1G
NameUSH1 protein network component sans
Chromosome17
Location17q25.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-29
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsUSH1G_HUMAN

GO terms

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GOName
GO:0001917 photoreceptor inner segment
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0007605 sensory perception of sound
GO:0015629 actin cytoskeleton
GO:0030507 spectrin binding
GO:0032391 photoreceptor connecting cilium
GO:0036064 ciliary basal body
GO:0042472 inner ear morphogenesis
GO:0042802 identical protein binding
GO:0045494 photoreceptor cell maintenance
GO:0050953 sensory perception of light stimulus
GO:0050957 equilibrioception
GO:0060122 inner ear receptor cell stereocilium organization

Diseases

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Disease IDSourceNameDescription
606943 OMIMUsher syndrome 1G (USH1G)USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with 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. The disease is caused by variants affecting the gene represented in this entry.
276900 OMIMUsher syndrome 1B (USH1B)USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with 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.