DISEASES

Disease-gene associations mined from literature

Literature on OTOL1

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 ...

Linkouts:  STRING  Pharos  UniProt