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 |