OR51B2 is an olfactory receptor family member located on chromosome 11 that functions as an odorant receptor with plasma membrane localization. Primary Function: OR51B2 encodes a G-protein coupled receptor involved in odorant detection and olfactory perception. A SNP in OR51B2 (rs10837814) was found to be significantly associated with perception of trans-3-methyl-2-hexenoic acid, a key component of human underarm odor 1. Mechanism: As a member of the olfactory receptor gene cluster on chromosome 11, OR51B2 may participate in odor coding through differential receptor activation patterns that converge on similar olfactory percepts 1. The gene cluster containing OR51B2 and neighboring olfactory receptor genes appears to possess regulatory elements that may influence gamma-globin gene expression 2. Disease Relevance: Polymorphisms in OR51B2 have been associated with phenotypic severity in β-thalassemia patients. The rs6578605 SNP in OR51B2 showed significant association with disease severity (P=0.018, OR=0.52), suggesting a protective effect of certain alleles 3. Clinical Significance: While OR51B2 SNPs showed univariate association with hydroxyurea response in β-thalassemia, this association did not remain significant in multivariate analysis 4. The gene's regulatory role in hemoglobin expression may offer therapeutic implications for hemoglobinopathy management.
No tissue expression data available for this gene.