Gene: OTOG

Alternate names for this Gene: DFNB18B|MLEMP|OTGN

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.1

Description of this Gene: otogelin

Type of Gene: protein-coding

rs78894156 in OTOG gene and Asthma PMID 25918132 2015 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma.

rs397514607 in OTOG gene and DEAFNESS, AUTOSOMAL RECESSIVE 18B PMID 23122587 2012 Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.