fbpx
Wikipedia

TECTA

January 01, 1970

For Tecta, a brand of a proton pump inhibitor drug, see Pantoprazole.

Alpha-tectorin is a protein that in humans is encoded by the TECTA gene.[5][6][7]

TECTA
Identifiers
AliasesTECTA, DFNA12, DFNA8, DFNB21, tectorin alpha
External IDsOMIM: 602574 MGI: 109575 HomoloGene: 3955 GeneCards: TECTA
Orthologs
SpeciesHumanMouse
Entrez

7007

21683

Ensembl

ENSG00000109927

ENSMUSG00000037705

UniProt

O75443

O08523

RefSeq (mRNA)

NM_005422

NM_009347
NM_001324548
NM_001378602

RefSeq (protein)

NP_005413

NP_001311477
NP_033373
NP_001365531

Location (UCSC)Chr 11: 121.1 – 121.19 MbChr 9: 42.24 – 42.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The tectorial membrane is an apical extracellular matrix (aECM) 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.[7]

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000109927 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037705 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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. S2CID 24814696.
  7. ^ a b "Entrez Gene: TECTA tectorin alpha".

Further reading edit

  • 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. S2CID 42513598.
  • 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. S2CID 31657425.
  • 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. S2CID 38393510.


 

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

January 01, 1970
tecta, tecta, brand, proton, pump, inhibitor, drug, pantoprazole, alpha, tectorin, protein, that, humans, encoded, gene, identifiersaliases, dfna12, dfna8, dfnb21, tectorin, alphaexternal, idsomim, 602574, 109575, homologene, 3955, genecards, gene, location, h. For Tecta a brand of a proton pump inhibitor drug see Pantoprazole Alpha tectorin is a protein that in humans is encoded by the TECTA gene 5 6 7 TECTAIdentifiersAliasesTECTA DFNA12 DFNA8 DFNB21 tectorin alphaExternal IDsOMIM 602574 MGI 109575 HomoloGene 3955 GeneCards TECTAGene location Human Chr Chromosome 11 human 1 Band11q23 3Start121 101 243 bp 1 End121 191 490 bp 1 Gene location Mouse Chr Chromosome 9 mouse 2 Band9 A5 1 9 23 63 cMStart42 240 915 bp 2 End42 311 225 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inoocytesecondary oocyteparietal lobepostcentral gyrussuperior frontal gyrussuperior vestibular nucleusponsBrodmann area 23ganglionic eminenceputamenTop expressed inutriclesacculepetrous part of the temporal bonecochleaentorhinal cortexsoleus musclegastrocnemius muscleretinamuscle tissuestriated muscle tissueMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionextracellular matrix structural constituentCellular componentanchored component of membrane extracellular exosome membrane extracellular region plasma membrane extracellular matrix collagen containing extracellular matrixBiological processcell matrix adhesion sensory perception of sound C terminal protein lipidationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez700721683EnsemblENSG00000109927ENSMUSG00000037705UniProtO75443O08523RefSeq mRNA NM 005422NM 009347NM 001324548NM 001378602RefSeq protein NP 005413NP 001311477NP 033373NP 001365531Location UCSC Chr 11 121 1 121 19 MbChr 9 42 24 42 31 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse The tectorial membrane is an apical extracellular matrix aECM 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 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000109927 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000037705 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 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 S2CID 24814696 a b Entrez Gene TECTA tectorin alpha Further reading editVan 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 Morle 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 a 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 S2CID 42513598 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 S2CID 31657425 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 S2CID 38393510 nbsp This article on a gene on human chromosome 11 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title TECTA amp oldid 1142721012, wikipedia, wiki, book, books, library,

article

, read, download, free, free download, mp3, video, mp4, 3gp, jpg, jpeg, gif, png, picture, music, song, movie, book, game, games.