Literature associating OTOL1 and autosomal recessive nonsyndromic deafness 18B
OTOL1 [ENSP00000330808]
Otolin-1; Collagen-like protein specifically expressed in the inner ear, which provides an organic scaffold for otoconia, a calcium carbonate structure in the saccule and utricle of the ear. Acts as a scaffold for biomineralization: sequesters calcium and forms interconnecting fibrils between otoconia that are incorporated into the calcium crystal structure. Together with OC90, modulates calcite crystal morphology and growth kinetics; Belongs to the OTOL1 family.
Synonyms: OTOL1, OTOL1p, hOTOL1, A6NHN0, A6NHN0p ...