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 |