Otogelin
Otogelin is a protein that in humans is encoded by the OTOG gene. [5]
| OTOG | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | OTOG, DFNB18B, MLEMP, OTGN, otogelin | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 604487 MGI: 1202064 HomoloGene: 8421 GeneCards: OTOG | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.
References
- GRCh38: Ensembl release 89: ENSG00000188162 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000009487 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Otogelin". Retrieved 2017-12-12.
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 (2012). "Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment". Am. J. Hum. Genet. 91 (5): 883–9. doi:10.1016/j.ajhg.2012.09.012. PMC 3487128. PMID 23122587.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.