OTOG gene

otogelin

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 18b

From UniProt:

Deafness, autosomal recessive, 18B (DFNB18B): A form of non-syndromic deafness characterized by a moderate hearing impairment, which can be associated with vestibular dysfunction, and a flat to shallow "U" or slightly downsloping shaped audiograms. [MIM:614945]

Cytogenetic Location: 11p15.1, which is the short (p) arm of chromosome 11 at position 15.1

Molecular Location: base pairs 17,547,373 to 17,645,944 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p15.1, which is the short (p) arm of chromosome 11 at position 15.1
  • DFNB18B
  • MLEMP
  • OTGN