OTOG otogelin [ Homo sapiens (human) ]
Source: NCBI Gene (ID 340990)
Source: NCBI Gene (ID 340990)
Symbol: OTOG
Full name: otogelin
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: DFNB18B; MLEMP; OTGN
Summary: 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]
Expression: Low expression observed in reference dataset
Orthologs: mouse
Gene size: 98786bp
Exon count: 56