CEACAM16 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | CEACAM16, CEAL2, DFNA4B, carcinoembryonic antigen related cell adhesion molecule 16, DFNB113, CEA cell adhesion molecule 16, tectorial membrane component | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 614591; MGI: 2685615; HomoloGene: 19857; GeneCards: CEACAM16; OMA:CEACAM16 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Carcinoembryonic antigen-related cell adhesion molecule 16 is encoded in the human by the CEACAM16 gene. It is a member of the carcinoembryonic antigen family, a cluster of genes on chromosome 19. CEACAM16 is a structure of the tectorial membrane involved in hearing at low and high frequencies. It is the only carcinoembryonic antigen found in the platypus. The protein is expressed in mammalian outer hair cells, and mutations in this gene are associated with autosomal dominant nonsyndromic deafness.
References
- ^ GRCh38: Ensembl release 89: ENSG00000213892 – Ensembl, May 2017
- ^ GRCm38: Ensembl release 89: ENSMUSG00000014686 – 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.
- Kammerer R, Rüttiger L, Riesenberg R, Schäuble C, Krupar R, Kamp A, et al. (June 2012). "Loss of mammal-specific tectorial membrane component carcinoembryonic antigen cell adhesion molecule 16 (CEACAM16) leads to hearing impairment at low and high frequencies". The Journal of Biological Chemistry. 287 (26): 21584–21598. doi:10.1074/jbc.M111.320481. PMC 3381124. PMID 22544735.
- Zheng J, Miller KK, Yang T, Hildebrand MS, Shearer AE, DeLuca AP, et al. (March 2011). "Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)". Proceedings of the National Academy of Sciences of the United States of America. 108 (10): 4218–4223. Bibcode:2011PNAS..108.4218Z. doi:10.1073/pnas.1005842108. PMC 3054008. PMID 21368133.
- Hofrichter MA, Nanda I, Gräf J, Schröder J, Shehata-Dieler W, Vona B, Haaf T (October 2015). "A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment". Molecular Syndromology. 6 (4): 156–163. doi:10.1159/000439576. PMC 4662267. PMID 26648831.
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