OTOP1
Description
The OTOP1 (otopetrin 1) is a protein-coding gene located on chromosome 4.
OTOP1 is a proton-selective channel that facilitates the transport of protons into cells. Its activity is minimally influenced by voltage. This channel is crucial for processes relying on intracellular pH changes, including cell signaling, biochemical regulation, and developmental processes. In the inner ear's vestibular system, OTOP1 is essential for the formation and function of otoconia, calcium carbonate crystals that detect gravity and acceleration. It likely contributes to otoconia formation by maintaining an optimal pH. OTOP1 regulates purinergic control of intracellular calcium in vestibular supporting cells. It may participate in sour taste perception by mediating proton entry into sour taste cells, thereby contributing to the sour taste sensation. OTOP1 also plays a role in energy metabolism by mitigating adipose tissue inflammation and safeguarding against metabolic dysfunction associated with obesity.
OTOP1 is also known as -.
Associated Diseases
- chorea, childhood-onset, with psychomotor retardation
- spinocerebellar ataxia type 29
- hearing loss, autosomal dominant 80
- hearing loss, autosomal dominant 77
- benign paroxysmal torticollis of infancy
- spinocerebellar ataxia type 18
- spastic ataxia 1
- episodic ataxia type 4
- overnutrition
