Statements (62)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
protein
|
| gptkbp:alcoholContent |
involved in cell signaling pathways
Usher syndrome proteins contains multiple domains part_of_the_Usher_syndrome_protein_family |
| gptkbp:animationStudio |
ongoing to elucidate its role in vision
|
| gptkbp:associatedWith |
Usher syndrome type II
|
| gptkbp:castMember |
interacts with myosin VIIA
|
| gptkbp:clinicalTrials |
characterized by progressive hearing loss
explored for retinal gene therapy focus on gene therapy approaches impact on quality of life for patients ongoing for gene replacement therapy potential for CRISPR-based therapies various trials in progress important_for_diagnosing_Usher_syndrome |
| gptkbp:community |
developmentally regulated
highly expressed in the retina |
| gptkbp:culturalEvents |
found in many vertebrates
|
| gptkbp:diseaseResistance |
associated with retinitis pigmentosa
involves disruption of sensory cell function linked to non-syndromic hearing loss identified_in_patients_with_Usher_syndrome |
| gptkbp:events |
important during embryonic development
|
| gptkbp:function |
involved in the structure and function of photoreceptor cells
|
| gptkbp:geneticDiversity |
gptkb:USH2A
chromosome 1 causes hearing loss and vision impairment mapped to specific loci on chromosome 1 over 200 variants reported important_for_families_with_Usher_syndrome |
| gptkbp:hasLocation |
photoreceptor outer segments
|
| https://www.w3.org/2000/01/rdf-schema#label |
USH2A protein
|
| gptkbp:impact |
aims to restore vision in affected individuals
investigated for potential treatments |
| gptkbp:interactsWith |
other proteins involved in phototransduction
|
| gptkbp:is_a_route_for |
involved in the visual cycle
|
| gptkbp:isInvolvedIn |
involved in ciliary function
|
| gptkbp:isOftenUsedIn |
detected in retinal tissues
|
| gptkbp:localAttraction |
localized to the photoreceptor synapse
|
| gptkbp:location |
inner segment of photoreceptors
|
| gptkbp:model |
studied in mouse models
|
| gptkbp:operations |
expressed in the cochlea
|
| gptkbp:participatesIn |
plays a critical role in retinal health
|
| gptkbp:paymentMethods |
produces multiple isoforms
|
| gptkbp:primaryFunction |
maintains photoreceptor integrity
|
| gptkbp:regulatoryBody |
may serve as a biomarker for retinal diseases
|
| gptkbp:regulatoryCompliance |
critical for sensory cell function
essential for photoreceptor cell maintenance |
| gptkbp:releaseYear |
1997
|
| gptkbp:research |
receives funding from various health organizations
available_for_Usher_syndrome_diagnosis |
| gptkbp:researchFocus |
gene_therapy_for_Usher_syndrome
|
| gptkbp:researchInterest |
target for drug development
involves multiple international research groups key target for understanding retinal diseases mutations lead to photoreceptor degeneration numerous studies published on its function understanding its complex interactions |
| gptkbp:symptoms |
includes night blindness
|
| gptkbp:technologyDomain |
contains PDZ-binding motifs
|
| gptkbp:weight |
approximately 230 kDa
|