Disorders Believed to be Related to Misfolded Proteins
| Diseases | Proteins Involved |
|---|---|
| Misrouting: | |
| Cystic Fibrosis | CFTR (chloride channel) |
| Systemic Amyloidosis | Amyloid fibrils, light chain variable domains |
| I-cell Disease | Unknown |
| Nephrogenic Diabetes Insipidus | Aquaporin-2, V-2 Receptor |
| Cancer | P53 protein |
| Hypogonadotropic hypogonadism | GnRHR |
| Retinitis Pigmentosa | Rhodopsin, carotenoid receptors |
| Emphysema | Alpha 1 antitrypsin |
| Alpha 1 Antitrypsin Deficiency | Alpha 1 antitrypsin |
| Liver Disease | |
| Aggregation: | |
| Alzheimer Disease | Amyloid, Tau protein |
| Creutzfeldt-Jakob | Amyloid |
| Spongiform Encephalopathies | Prion glycoprotein (PrP) |
| Sickle Cell Anemia | Hemoglobin |
| Parkinson Disease | Alpha-synclein, Parkin, ubiquitin C, crystallins |
| Cataracts | Lens crystallins |
| Dominant Negative: | |
| Hypertrophic Cardiomyopathy | Troponin T |