| Entrez Gene ID | 7007 |
|---|---|
| Official Gene Symbol | TECTA (GeneCards) |
| Full name | tectorin alpha |
| Location | 11q23.3 |
| Other ids | Vega : OTTHUMG00000149908 MIM : 602574 HGNC : HGNC:11720 Ensembl : ENSG00000109927 |
| Other names | DFNA8, DFNA12, DFNB21 |
| Summary | 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. [provided by RefSeq, Jul 2008] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 15689 | 7007 | TECTA | 11 | 121157159 | 121157159 | Asymptomatic | HiSeq X Ten |
| 15888 | 7007 | TECTA | 11 | 121059546 | 121059546 | Cockayne syndrome | HiSeq X Ten |
| 23567 | 7007 | TECTA | 11 | 121101738 | 121101738 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 27335 | 7007 | TECTA | 11 | 121010071 | 121010071 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29502 | 7007 | TECTA | 11 | 121039453 | 121039453 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning MiSeq |