OR4F4

OR4F4 is a gene that in humans is encoded by the OR4F4 olfactory receptor family 4 subfamily F member 4. The gene is also known as olfactory receptor, family 4, subfamily F, member 4. It is a protein-coding gene. Diseases associated with OR4F4 include Congenital anosmia and Kallmann syndrome.

Function

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.

Clinical significance

Variations in this gene can lead to differences in an individual's sense of smell, or even a lack of smell (anosmia). Anosmia can be linked to some forms of congenital anosmia, in which a person is born with a lifelong inability to smell. It may also be linked to Kallmann syndrome, a condition that can involve anosmia.

See also

• Olfactory receptor
• Anosmia
• Kallmann syndrome

External links

• OR4F4 at the US National Library of Medicine Medical Subject Headings (MeSH)

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