Otogelin Explained

Otogelin is a protein that in humans is encoded by the OTOG gene.^[1]

Function

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].

Deafness

If people don't have otogelin or otogelin-like they are born with mild or moderate deafness. https://www.pnas.org/content/116/51/25948.abstract?etoc

Further reading

• Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H . Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment . Am. J. Hum. Genet. . 91 . 5 . 883–9 . 2012 . 23122587 . 3487128 . 10.1016/j.ajhg.2012.09.012 .

Notes and References

1. Web site: Entrez Gene: Otogelin. 2017-12-12.