Table 6.
Genes and Proteins (Including Function) Involved in Usher Syndrome (Adapted from [33])
| Locus | Gene/protein | Function |
|---|---|---|
| USH1B/DFNB2/DFNA1 | MYO7A/myosin VIIA | IE and R: transport |
| USH1C/DFNB18 | USH1C/harmonin | IE and R: scaffolding |
| USH1D/DFNB12 | CDH23/cadherin23 | IE: tip link formation; R: periciliary maintenance |
| USH1E | -/- | Unknown |
| USH1F/DFNB23 | PDCH15/protocadherin 15 | IE: tip link formation; R: periciliary maintenance |
| USH1G | USH1G/SANS | IE and R: scaffolding and protein trafficking |
| USH1H | -/- | Unknown |
| USH2A/RP | USH2A/usherin | IE: ankle links formation and cochlear development; R: periciliary maintenance |
| USH2C | GPR98/VLGR1 | IE: ankle links formation and cochlear development; R: periciliary maintenance |
| USH2D/DFNB31 | DNFB3/whirlin | IE: scaffolding and cochlear development; R: scaffolding |
| USH3A | USH3A/clarin-1 | IE and R: probable role in synapsis transport |
| USH3B | -/- | Unknown |
Abbreviations: USH = Usher syndrome; DFNB = autosomal recessive deafness; DFNA = autosomal dominant deafness; RP = retinitis pigmentosa; IE = inner ear; R = retina.