tectorin alpha
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Den TECTA gene provides instructions for making a protein called alpha-tectorin. This protein is found in the tectorial membrane, which is part of a snail-shaped structure called the cochlea in the inner ear. The cochlea converts sound waves into nerve impulses, which are then transmitted to the brain. This process is critical for normal hearing.
Normal function
Den TECTA gene provides instructions for making a protein called alpha-tectorin. This protein is found in the tectorial membrane, which is part of a snail-shaped structure called the cochlea in the inner ear. The cochlea converts sound waves into nerve impulses, which are then transmitted to the brain. This process is critical for normal hearing.
Alpha-tectorin is large protein with multiple regions (called domains) through which it interacts with other proteins. These interactions are critical for the normal formation of the tectorial membrane.
Conditions referring to this gene or chromosome
Other names
DFNA12
DFNA8
DFNB21
TECTA_HUMAN
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Som... Very mild forms (spinal bifida occulta), in which there are no symptoms, may never be detected. Before birth The most common screening methods used to look for spina bifida during pregnancy are the blood test for alpha-fetoprotein and an ultraljud scan, which are routinely performed at 16-18 weeks of pregnancy. See the separate leaflet.
Vidare läsning och referenser
- tectorin alpha; MedlinePlus, National Library of Medicine.
- Balciuniene J, Dahl N, Jalonen P, Verhoeven K, Van Camp G, Borg E, Pettersson U, Jazin EE. Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes. Hum Genet. 1999 Sep;105(3):211-6. doi: 10.1007/s004390051091.
- Gonzalez-Aguado R, Onecha E, Gallo-Teran J, Morales-Angulo C. Hearing Loss Secondary to TECTA Gene Mutations. Ann Otol Rhinol Laryngol. 2025 Jun;134(6):405-413. doi: 10.1177/00034894251315550. Epub 2025 Feb 4.
- Hildebrand MS, Morin M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencia A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA. DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7.
- Meyer NC, Alasti F, Nishimura CJ, Imanirad P, Kahrizi K, Riazalhosseini Y, Malekpour M, Kochakian N, Jamali P, Van Camp G, Smith RJ, Najmabadi H. Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am J Med Genet A. 2007 Jul 15;143A(14):1623-9. doi: 10.1002/ajmg.a.31718.
- Moreno-Pelayo MA, del Castillo I, Villamar M, Romero L, Hernandez-Calvin FJ, Herraiz C, Barbera R, Navas C, Moreno F. A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family. J Med Genet. 2001 May;38(5):E13. doi: 10.1136/jmg.38.5.e13. No abstract available.
- Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet. 1999 Mar;8(3):409-12. doi: 10.1093/hmg/8.3.409.
- Naz S, Alasti F, Mowjoodi A, Riazuddin S, Sanati MH, Friedman TB, Griffith AJ, Wilcox ER, Riazuddin S. Distinctive audiometric profile associated with DFNB21 alleles of TECTA. J Med Genet. 2003 May;40(5):360-3. doi: 10.1136/jmg.40.5.360. No abstract available.
- Pfister M, Thiele H, Van Camp G, Fransen E, Apaydin F, Aydin O, Leistenschneider P, Devoto M, Zenner HP, Blin N, Nurnberg P, Ozkarakas H, Kupka S. A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem. 2004;14(4-6):369-76. doi: 10.1159/000080347.
- 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. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet. 1998 May;19(1):60-2. doi: 10.1038/ng0598-60.
- Yang Y, Xiong Y, Lai H, Feng C, Chen Z, Huang Y, Guo Z, Li X, Luo L, Zhao F, Wu P, Luo H, Liu Y, Liu Y, Zou Y. A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect. Hum Mol Genet. 2025 Sep 3;34(18):1517-1525. doi: 10.1093/hmg/ddaf109.
Artikelhistorik
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18 aug 2020 | Senaste versionen
1 Jan 2016 | Ursprungligen publicerad
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