OTOP1

Chr 4

otopetrin 1

NCBI Gene: 133060 ENSG00000163982 UniProt: Q7RTM1

This gene encodes OTOP1, a proton-selective ion channel that is essential for the formation of otoconia, the calcium carbonate structures in the inner ear that detect gravity and linear acceleration. Mutations cause autosomal recessive benign paroxysmal positional vertigo type 2, characterized by episodic vertigo and balance problems due to absent or malformed otoconia. The gene shows minimal constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

This gene encodes a transmembrane protein which belongs to the otopetrin domain protein family and is required for the formation of otoconia and otoliths, calcium carbonate biominerals within the inner ear of mammals that are required for the detection of linear acceleration and gravity. This gene modulates purinergic control of intracellular calcium in vestibular supporting cells. Naturally occurring mutations in the orthologous mouse gene are associated with nonsyndromic otoconia agenesis and a consequent balance defect. The orthologous mouse gene is also induced in white adipose tissue during obesity. The encoded protein is a component of a counterinflammatory pathway that attenuates obesity-induced adipose tissue inflammation and plays an adaptive role in maintaining metabolic homeostasis in obesity. [provided by RefSeq, Jul 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.88

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)