TABLE III.
Gene Symbol | Gene Product | Function | Location | Mouse Model | Syndromic Locus | Nonsyndromic Locus | References |
---|---|---|---|---|---|---|---|
MYO7A | Myosin VIIa | Intracellular motor | 11q12.3 | Shaker-1 | USH1B | DFNA11, B2 | 85, 86 |
USH1C | Harmonin | Scaffold protein | 11p15.1 | Deaf circler | USH1C | DFNB18 | 87 |
CDH23 | Cadherin 23 | Intercellular adhesion | 10q21-q22 | Waltzer | USH1D | DFNB12 | 88, 89 |
PCDH15 | Protocadherin 15 | Intercellular adhesion | 10q21 | Ames waltzer | USH1F | DFNB23 | 90, 91 |
SANS | SANS | Scaffold protein | 17q24-q25 | Jackson circler | USH1G | 92 | |
MYO6 | Myosin VI | Intracellular motor | 6q13 | Snell’s waltzer | DFNA22, B37 | 93, 94 | |
KCNQ1 | KCNQ1 | Potassium channel | 11p15.5 | JLNS1 | 51 | ||
KCNE1 | KCNE1 | Potassium channel | 21q22.1-q22.2 | JLNS2 | 52 | ||
MYO15 | Myosin 15 | Intracellular motor | 17p11.2 | Shaker-2 | DFNB3 | 95, 96 |
For complete list, see Hereditary Hearing Loss Homepage, http://webhost.ua.ac.be/hhh.