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gene: OR51I2

id390064
symbolOR51I2
organismHomo sapiens
full nameolfactory receptor family 51 subfamily I member 2
summaryOlfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
variant-disease

NC_000011.9:g.5454730_5496463dup AND Primary amenorrhea

GRCh37/hg19 11p15.4(chr11:5361271-5616544)x1 AND See cases

GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 AND See cases

GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 AND not provided

GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) AND Russell-Silver syndrome

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