Tectorin, Alpha

Alternative Names

  • TECTA
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OMIM Number

602574

NCBI Gene ID

7007

Uniprot ID

O75443

Length

90,321 bases

No. of Exons

23

No. of isoforms

1

Protein Name

Alpha-tectorin

Molecular Mass

239527 Da

Amino Acid Count

2155

Genomic Location

chr11:121,101,173-121,191,493

Gene Map Locus
11q23.3

Description

The wild-type alpha-tectorin protein is one of the three major non-collagenous components of the tectorial membrane in the inner ear. Several studies have revealed that the tectorial membrane is thought to play an important role in ensuring an optimal cochlear feedback as well as providing the principal drive to the inner hair cells at their optimal frequency. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005422.2:c.2941+1G>ALebanonchr11:121130212PathogenicPathogenicDeafness, Autosomal Recessive 21NG_011633.1:g.32547G>A ; NM_005422.2:c.2941+1G>A9666218657015
NM_005422.2:c.4857C>APalestinechr11:121160302PathogenicPathogenicDeafness, Autosomal Recessive 21NG_011633.1:g.62637C>A; NM_005422.2:c.4857C>A; NP_005413.2:p.Cys1619Ter764153521402279
NM_005422.4:c.569C>TLebanonchr11:121113154PathogenicDeafness, Autosomal Recessive 21NG_011633.1:g.15489C>T; NM_005422.4:c.569C>T; NP_005413.2:p.Thr190Met753493990
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