Table 4.
Defective proteins in stria vascularis and vestibular dark cells, and related diseases.
| Gene | Description/synonyms | Related diseases |
|---|---|---|
| COL4A3, COL4A4, COL4A5 | Collagen type IV, alpha subunits III-V | Alport syndrome |
| GJA7 | Junction protein α7 /Connexin 43 | Non-syndromic deafness |
| GJB2 | Gap junction protein β2 /Connexin 26 | DFNA3/DFNB1 |
| GJB3 | Gap junction protein β3 /Connexin 31 | DFNBA2 |
| GJB6 | Gap junction protein β6 /Connexin 30 | DFNA3 |
| GJE1 | Gap junction protein ɛ1/Connexin 29 | Non-syndromic deafness |
| Cldn11 | Transmembrane protein claudin 11 | Deafness |
| Cldn14 | Transmembrane protein claudin 14 | DFNB19 |
| TMPRSS3 | Transmembrane protease, serine 3 | Deafness/DFNB8/10 |
| KCNQ1/KCNE1 | KvLQT1=voltage-activated K+ channel of long QT syndrome1 /IsK=slowly activating K+ current, minK=minimal K+ channel | Deafness/Jervell & Lange-Nielsen syndrome |
| KCNJ10 | Kir4.1=inward rectifier-type potassium channel | SeSAME or EAST syndrome |
| Slc12a2 | Na+-K+-2Cl−- cotransporter,solute carrier, family 12, member 2/NKCC1, BSC2 | Deafness |
| CLCNKA and CLCNKB | Type K chloride channel/ClC-Ka and ClC-Kb | Deafness/Bartter syndrome IV |
| ATP6V1B1, ATP6VOA4 | H+-ATPase (B1, A4) | Deafness/Distal renal tubular acidosis |
| SLC26A4 | Pendrin protein | Deafness/Pendred syndrome/DFNB4 |
| AQP4 | Aquaporin water channel protein 4 | Deafness |