| OTOA | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | OTOA, CT108, DFNB22, otoancorin | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607038 MGI: 2149209 HomoloGene: 71803 GeneCards: OTOA | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Otoancorin is a protein found in the vertebrate inner ear, on the sensory epithelia where it connects to the gel matrix.[5]
Otoancorin is found in the cochlea, utricule, saccule, and under the cupulae on the surface of apical dells in the sensory epithelia.[6]
In humans the gene that encodes otoancorin is called OTOA. It is on chromosome 16p12.2 and contains 28 exons. A recessive mutation in this gene called IVS12+2T>C results in deafness. The human protein has 1,153 amino acids.[6]
In the mouse, this protein has 1088 amino acids.[6] In mice otoancorin is needed to attach the tectorial membrane to the inner hair cells in the cochlea.[7]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000155719 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034990 - 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.
- ↑ Deans MR, Peterson JM, Wong GW (September 2010). "Mammalian Otolin: a multimeric glycoprotein specific to the inner ear that interacts with otoconial matrix protein Otoconin-90 and Cerebellin-1". PLOS ONE. 5 (9): e12765. Bibcode:2010PLoSO...512765D. doi:10.1371/journal.pone.0012765. PMC 2939893. PMID 20856818.
- 1 2 3 Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, et al. (April 2002). "Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22". Proceedings of the National Academy of Sciences of the United States of America. 99 (9): 6240–5. Bibcode:2002PNAS...99.6240Z. doi:10.1073/pnas.082515999. PMC 122933. PMID 11972037.
- ↑ Weddell T, Legan PK, Lukashkina VA, Goodyear RJ, Welstead L, Petit C, et al. (2011). "Otoancorin Knockout Mice Reveal Inertia is the Force for Hearing". American Institute of Physics Conference Series. AIP Conference Proceedings. 1403 (1): 139–140. Bibcode:2011AIPC.1403..139W. doi:10.1063/1.3658074.
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