TECTA
For Tecta, a brand of a proton pump inhibitor drug, see Pantoprazole.
| Tectorin alpha | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | TECTA ; DFNA12; DFNA8; DFNB21 | ||||||||||||
| External IDs | OMIM: 602574 MGI: 109575 HomoloGene: 3955 GeneCards: TECTA Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 7007 | 21683 | |||||||||||
| Ensembl | ENSG00000109927 | ENSMUSG00000037705 | |||||||||||
| UniProt | O75443 | O08523 | |||||||||||
| RefSeq (mRNA) | NM_005422 | NM_009347 | |||||||||||
| RefSeq (protein) | NP_005413 | NP_033373 | |||||||||||
| Location (UCSC) |
Chr 11: 121.1 – 121.19 Mb |
Chr 9: 42.33 – 42.4 Mb | |||||||||||
| PubMed search | |||||||||||||
Alpha-tectorin is a protein that in humans is encoded by the TECTA gene.[1][2][3]
The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness.[3]
References
- ↑ Hughes DC, Legan PK, Steel KP, Richardson GP (Apr 1998). "Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness". Genomics 48 (1): 46–51. doi:10.1006/geno.1997.5159. PMID 9503015.
- ↑ Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G (May 1998). "Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment". Nat Genet 19 (1): 60–2. doi:10.1038/ng0598-60. PMID 9590290.
- 1 2 "Entrez Gene: TECTA tectorin alpha".
Further reading
- Van Camp G, Willems PJ, Smith RJ (1997). "Nonsyndromic hearing impairment: unparalleled heterogeneity". Am. J. Hum. Genet. 60 (4): 758–64. PMC 1712474. PMID 9106521.
- Verhoeven K, Van Camp G, Govaerts PJ, et al. (1997). "A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24". Am. J. Hum. Genet. 60 (5): 1168–73. PMC 1712440. PMID 9150164.
- Balciuniene J, Dahl N, Borg E, et al. (1998). "Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family". Am. J. Hum. Genet. 63 (3): 786–93. doi:10.1086/302012. PMC 1377400. PMID 9718342.
- Mustapha M, Weil D, Chardenoux S, et al. (1999). "An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21". Hum. Mol. Genet. 8 (3): 409–12. doi:10.1093/hmg/8.3.409. PMID 9949200.
- Alloisio N, Morlé L, Bozon M, et al. (1999). "Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss". Eur. J. Hum. Genet. 7 (2): 255–8. doi:10.1038/sj.ejhg.5200273. PMID 10196713.
- Balciuniene J, Dahl N, Jalonen P, et al. (2000). "Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes". Hum. Genet. 105 (3): 211–6. doi:10.1007/s004390051091. PMID 10987647.
- Moreno-Pelayo MA, del Castillo I, Villamar M, et al. (2001). "A cysteine substitution in the zona pellucida domain of α-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family". J. Med. Genet. 38 (5): E13. doi:10.1136/jmg.38.5.e13. PMC 1734870. PMID 11333869.
- Iwasaki S, Harada D, Usami S, et al. (2002). "Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss". Arch. Otolaryngol. Head Neck Surg. 128 (8): 913–7. doi:10.1001/archotol.128.8.913. PMID 12162770.
- Naz S, Alasti F, Mowjoodi A, et al. (2003). "Distinctive audiometric profile associated with DFNB21 alleles of TECTA". J. Med. Genet. 40 (5): 360–3. doi:10.1136/jmg.40.5.360. PMC 1735454. PMID 12746400.
- Pfister M, Thiele H, Van Camp G, et al. (2005). "A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations". Cell. Physiol. Biochem. 14 (4–6): 369–76. doi:10.1159/000080347. PMID 15319541. replacement character in
|first6=at position 1 (help) - Plantinga RF, de Brouwer AP, Huygen PL, et al. (2006). "A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation". J. Assoc. Res. Otolaryngol. 7 (2): 173–81. doi:10.1007/s10162-006-0033-z. PMC 2504577. PMID 16718611.
- Plantinga RF, Cremers CW, Huygen PL, et al. (2007). "Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family". J. Assoc. Res. Otolaryngol. 8 (1): 1–7. doi:10.1007/s10162-006-0060-9. PMC 2538417. PMID 17136632.
- Meyer NC, Alasti F, Nishimura CJ, et al. (2007). "Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus". Am. J. Med. Genet. A 143 (14): 1623–9. doi:10.1002/ajmg.a.31718. PMID 17431902.
- Meyer NC, Nishimura CJ, McMordie S, Smith RJ (2007). "Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree". Clin. Genet. 72 (2): 130–7. doi:10.1111/j.1399-0004.2007.00828.x. PMID 17661817.
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