| Primary defect | Gene | Protein | Type of molecule |
|---|---|---|---|
|
|
MYO7A | Myosin VIIA | Motor protein |
| MYO15 | Myosin XV | Motor protein | |
| MYO6 | Myosin VI | Motor protein | |
| USH1C | Harmonin | PDZ domain-containing protein | |
| CDH23 | Cadherin-23 | Cell adhesion protein | |
| Espn | Espin | Actin-binding protein | |
| KCNQ4 | KCNQ4 | K+ channel subunit | |
| Atp2b2/Pmca2 | Ca2+-ATPase 2 | Calcium pump | |
| OTOF | Otoferlin | Vesicle trafficking protein | |
| POU4F3 | POU4F3 | Transcription factor | |
|
|
CX26/GJB2 | Connexin 26 | Gap junction protein |
| CX30/GJB6 | Connexin 30 | Gap junction protein | |
| CX31/GJB3 | Connexin 31 | Gap junction protein | |
| Slc12a2/Nkcc1 | NKCC1 | Na+K+2Cl- cotransporter | |
| PDS | Pendrin | Iodide/chloride transporter | |
| CLDN14 | Claudin-14 | Tight junction component | |
| COCH | Cochlin | Extracellular matrix component | |
| EYA4 | EYA4 | Transcriptional coactivator | |
| POU3F4 | POU3F4 | Transcription factor | |
|
|
COL11A2 | Collagen XI (alpha2 chain) | Extracellular matrix |
| TECTA | alpha-tectorin | Extracellular matrix | |
| Otog | Otogelin | Extracellular matrix | |
|
|
TMPRSS3 | TMPRSS3 | Transmembrane serine protease |
| PCDH15 | Protocadherin-15 | Cell adhesion protein | |
| HDIA1 | Diaphanous-1 | Regulator of actin cytoskeleton | |
| DFNA5 | |||
| MYH9 | Myosin IIA | Motor protein | |
| MTRNR1 | Mitochondrial 12SrRNA | ||
| MTTS1 | Mitochondrial tRNAser(UCN) |
| Head | Rod | Tail |
|---|---|---|
|
|
|
|
Biochemistry and Molecular Biology Resources
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