1 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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2PubMed Papers
4Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneolfactory receptor activitysystem processG protein-coupled receptor signaling pathwaycervical carcinomahypothyroidismretinitis pigmentosaallergic asthma
OR56A5 is an olfactory receptor localized to the plasma membrane with odorant receptor activity. Based on limited published evidence, OR56A5 has been identified as a candidate gene in retinitis pigmentosa pathogenesis, with missense variants detected in affected individuals 1. However, the functional role of OR56A5 variants in retinal disease requires further investigation to establish causative mechanisms.
1
OR56A5 missense variants were identified in retinitis pigmentosa patients through whole-exome sequencing, though additional evidence-based studies are needed to confirm pathogenic roles
PMID: 34070492⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
cervical carcinomaOpen Targets
hypothyroidismOpen Targets
retinitis pigmentosaOpen Targets
allergic asthmaOpen Targets
No pathogenic variants reported on ClinVar for this gene.