Protein-->Disease Flashcards
1
Q
Hsp60
A
Hereditary spastic paraplegia
2
Q
Sacsin
A
Spastic ataxia Charlevoix
3
Q
A-crystalline B
A
cataracts, myofibrillar myopathy
4
Q
phenyl alanine hydroxylase
A
phenylketonuria
5
Q
glucosyl ceramidase
A
Gaucher’s disease
6
Q
Cystic fibrosis transmembrane conductance regulator (CFTR)
A
Cystic fibrosis
7
Q
alpha-galactosidase
A
Fabry disease
8
Q
Acid alpha-glucosidase
A
Pompe’s disease
9
Q
Cystathionine Beta- synthase
A
Homocystinuria
10
Q
HbS
A
Sickle cell disease
11
Q
Prion protein (Prp)
A
Creutzfeld Jacob disease/ spongiform encephalopathies
12
Q
Huntington
A
Huntington’s Disease
13
Q
beta-amyloid protein
A
Alzheimer’s Disease
14
Q
alpha-synuclein
A
parkinson’s disease
15
Q
Pink1
A
parkinson’s disease
