External Ids for OTOG Gene
Previous GeneCards Identifiers for OTOG Gene
The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
GeneCards Summary for OTOG Gene
OTOG (Otogelin) is a Protein Coding gene. Diseases associated with OTOG include Deafness, Autosomal Recessive 18B and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. GO annotations related to this gene include structural molecule activity and alpha-L-arabinofuranosidase activity. An important paralog of this gene is OTOGL.
UniProtKB/Swiss-Prot for OTOG Gene
Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity).