OR1C1

Chr 1

olfactory receptor family 1 subfamily C member 1

Also known as: HSTPCR27, OR1-42, OR1.5.10, ORL211, TPCR27

NCBI Gene: 26188 ENSG00000221888 UniProt: Q15619

OR1C1 encodes an olfactory receptor that detects odorant molecules in the nose and initiates G-protein-coupled signaling to trigger smell perception. This gene is not well-established as a cause of human disease, and loss-of-function variants are likely tolerated given its low constraint scores. OR1C1 is one of many olfactory receptor genes, and isolated dysfunction would not be expected to cause significant clinical phenotypes in pediatric patients.

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.60

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)