OR8B4

Chr 11

olfactory receptor family 8 subfamily B member 4

Also known as: OR11-315, OR8B4P

NCBI Gene: 283162 ENSG00000280090 UniProt: Q96RC9

OR8B4 encodes an olfactory receptor that binds odorant molecules and initiates G-protein-coupled signaling to trigger smell perception. This gene is a segregating pseudogene where some individuals carry functional alleles while others have non-functional variants, and no Mendelian diseases have been associated with OR8B4 mutations. The gene shows low constraint to loss-of-function variation (pLI = 0.03, LOEUF = 1.32), consistent with its variable functionality across the population.

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 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, Jul 2015]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.32

LOEUF

Multiple*

Mechanism· predicted