GENETIC ENCYCLOPEDIA
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gene: OR52R1

id119695
symbolOR52R1
organismHomo sapiens
full nameolfactory receptor family 52 subfamily R member 1 (gene/pseudogene)
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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
variant-disease

GRCh37/hg19 11p15.4(chr11:4825349-4862853)x1 AND not provided

GRCh37/hg19 11p15.4(chr11:4387760-4840438)x3 AND See cases

GRCh37/hg19 11p15.4(chr11:4364896-4926365)x3 AND See cases

GRCh37/hg19 11p15.4(chr11:4642886-5200656)x3 AND See cases

GRCh37/hg19 11p15.4(chr11:3898872-4853895)x1 AND See cases

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