OR8G1

Chr 11

olfactory receptor family 8 subfamily G member 1

Also known as: HSTPCR25, OR8G1P, TPCR25

NCBI Gene: 26494 ENSG00000197849 UniProt: Q15617

OR8G1 encodes an olfactory receptor that interacts with odorant molecules to initiate neuronal responses triggering smell perception through G-protein-coupled receptor signaling. This gene represents a polymorphic pseudogene where some individuals carry functional alleles while others have non-functional variants with early stop codons, and it shows low constraint to loss-of-function variation in the population. No Mendelian disease associations have been established for this olfactory receptor gene.

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. This family member represents a polymorphic pseudogene, whereby some individuals have a functional allele that encodes a full-length protein, while others have a non-functional allele due to the presence of an early stop codon and a 3' end deletion. [provided by RefSeq, Feb 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.63

LOEUF

Multiple*

Mechanism· predicted