OR1A1

Chr 17

olfactory receptor family 1 subfamily A member 1

Also known as: OR17-7

NCBI Gene: 8383 ENSG00000172146 UniProt: Q9P1Q5 OMIM: 618046

OR1A1 encodes an olfactory receptor that binds odorant molecules and initiates G-protein-coupled signaling cascades to trigger smell perception. No Mendelian diseases have been definitively associated with mutations in this gene in OMIM or major clinical databases. This gene is part of the largest gene family in the human genome, with over 800 olfactory receptor genes contributing to our sense of smell.

OMIM ResearchSummary from RefSeq, UniProt

Olfactory 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. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.74

LOEUF

Multiple*

Mechanism· predicted