OTOL1
Description
The OTOL1 (otolin 1) is a protein-coding gene located on chromosome 3.
Otolin-1 is a collagen-like protein exclusively found in the inner ear. It acts as a framework for the formation of otoconia, small calcium carbonate structures located in the saccule and utricle. Otolin-1 facilitates biomineralization by binding calcium and forming interconnected fibers between otoconia. These fibers become integrated into the calcium crystal structure. In collaboration with OC90, Otolin-1 regulates the shape and growth rate of calcite crystals.
OTOL1 is also known as C1QTNF15, C1QTNF16.
Associated Diseases
- schizophrenia
- 46,XX ovotesticular disorder of sex development
- 46,XY complete gonadal dysgenesis
- testicular agenesis
- 46,XY sex reversal 3
- Mayer-Rokitansky-Kuster-Hauser syndrome
