Metabolic Diseases - II

Protein

Disease

Notes

Beta Amyloid

Alzheimer's

Protein aggregation.

Alpha Hexosaminidase

Tay-Sachs

Improper trafficking.

Alpha Ketoacid dehydrogenase

Maple syrup urine disease

Protein folding.

Alpha1 Antitrypsin

Alpha1 Antitrypsin deficiency

Improper trafficking.

Ankyrin

Hereditary Spherocytosis

CFTR

Cystic fibrosis

Protein folding.

Collagen

Scurvy

Protein folding.

Crystallins

Cataracts

Protein aggregation.

Dystrophin

Duchenne's muscular dystrophy

Protein is absent.

Factor VIII

Classic hemophilia (Hem. A)

Fibrillin

Marfan

Protein folding.

Insulin receptor

Leprechaunism

Improper trafficking.

LDL receptor

familial Hypercholesterolemia

Improper trafficking.

p53

Cancer.

Protein folding.

Prion

Creutzfeldt-Jakob

Protein aggregation.

Procollagen

Osteogenesis imperfecta

Misassembly.

Rhodopsin

Retinitis pigmentosa

Improper trafficking.

Spectrin

Hereditary Spherocytosis

Surfactant (dipalmitoyl phosphatidylcholine)

Respiratory Distress Syndrome

Superoxide dismutase

Amyotrophic Lateral Sclerosis

Protein folding.