SLC26A5
Solute carrier family 26, member 5 (prestin) | |||||||||||
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Identifiers | |||||||||||
Symbols | SLC26A5 ; DFNB61; MGC118886; MGC118887; MGC118888; MGC118889; PRES | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 69472 | ||||||||||
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Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
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RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Solute carrier family 26, member 5 (prestin), also known as SLC26A5, is a human gene.[1]
This gene is a member of the SLC26A/SulP transporter family. It encodes a protein that is specifically expressed in outer hair cells (OHCs) of the cochlea and is essential in auditory processing. Intracellular anions are thought to act as extrinsic voltage sensors, which bind to this protein and trigger the conformational changes required for rapid length changes in OHCs. Mutations in this gene have been associated with non-syndromic hearing loss. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[1]
See also
References
Further reading
- Markovich D (2001). "Physiological roles and regulation of mammalian sulfate transporters". Physiol. Rev. 81 (4): 1499–533. PMID 11581495.
- Dallos P, Fakler B (2002). "Prestin, a new type of motor protein". Nat. Rev. Mol. Cell Biol. 3 (2): 104–11. doi:10.1038/nrm730. PMID 11836512.
- Dallos P, Zheng J, Cheatham MA (2006). "Prestin and the cochlear amplifier". J. Physiol. (Lond.). 576 (Pt 1): 37–42. doi:10.1113/jphysiol.2006.114652. PMID 16873410.
- "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. PMID 9847074.
- Zheng J, Shen W, He DZ; et al. (2000). "Prestin is the motor protein of cochlear outer hair cells". Nature. 405 (6783): 149–55. doi:10.1038/35012009. PMID 10821263.
- Lohi H, Kujala M, Kerkelä E; et al. (2001). "Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger". Genomics. 70 (1): 102–12. doi:10.1006/geno.2000.6355. PMID 11087667.
- Oliver D, He DZ, Klöcker N; et al. (2001). "Intracellular anions as the voltage sensor of prestin, the outer hair cell motor protein". Science. 292 (5525): 2340–3. doi:10.1126/science.1060939. PMID 11423665.
- Weber T, Zimmermann U, Winter H; et al. (2002). "Thyroid hormone is a critical determinant for the regulation of the cochlear motor protein prestin". Proc. Natl. Acad. Sci. U.S.A. 99 (5): 2901–6. doi:10.1073/pnas.052609899. PMID 11867734.
- Liberman MC, Gao J, He DZ; et al. (2002). "Prestin is required for electromotility of the outer hair cell and for the cochlear amplifier". Nature. 419 (6904): 300–4. doi:10.1038/nature01059. PMID 12239568.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Liu XZ, Ouyang XM, Xia XJ; et al. (2004). "Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss". Hum. Mol. Genet. 12 (10): 1155–62. PMID 12719379.
- Hillier LW, Fulton RS, Fulton LA; et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
- Dong XX, Iwasa KH (2004). "Tension sensitivity of prestin: comparison with the membrane motor in outer hair cells". Biophys. J. 86 (2): 1201–8. PMID 14747354.
- Matsuda K, Zheng J, Du GG; et al. (2004). "N-linked glycosylation sites of the motor protein prestin: effects on membrane targeting and electrophysiological function". J. Neurochem. 89 (4): 928–38. doi:10.1111/j.1471-4159.2004.02377.x. PMID 15140192.
- Chambard JM, Ashmore JF (2005). "Regulation of the voltage-gated potassium channel KCNQ4 in the auditory pathway". Pflugers Arch. 450 (1): 34–44. doi:10.1007/s00424-004-1366-2. PMID 15660259.
- Rajagopalan L, Patel N, Madabushi S; et al. (2006). "Essential helix interactions in the anion transporter domain of prestin revealed by evolutionary trace analysis". J. Neurosci. 26 (49): 12727–34. doi:10.1523/JNEUROSCI.2734-06.2006. PMID 17151276.
- Toth T, Deak L, Fazakas F; et al. (2007). "A new mutation in the human pres gene and its effect on prestin function". Int. J. Mol. Med. 20 (4): 545–50. PMID 17786286.
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