Protein-->Disease

Question 1

Hsp60

Answer 1

Hereditary spastic paraplegia

Question 2

Sacsin

Answer 2

Spastic ataxia Charlevoix

Question 3

A-crystalline B

Answer 3

cataracts, myofibrillar myopathy

Question 4

phenyl alanine hydroxylase

Answer 4

phenylketonuria

Question 5

glucosyl ceramidase

Answer 5

Gaucher’s disease

Question 6

Cystic fibrosis transmembrane conductance regulator (CFTR)

Answer 6

Cystic fibrosis

Question 7

alpha-galactosidase

Answer 7

Fabry disease

Question 8

Acid alpha-glucosidase

Answer 8

Pompe’s disease

Question 9

Cystathionine Beta- synthase

Answer 9

Homocystinuria

Question 10

HbS

Answer 10

Sickle cell disease

Question 11

Prion protein (Prp)

Answer 11

Creutzfeld Jacob disease/ spongiform encephalopathies

Question 12

Huntington

Answer 12

Huntington’s Disease

Question 13

beta-amyloid protein

Answer 13

Alzheimer’s Disease

Question 14

alpha-synuclein

Answer 14

parkinson’s disease

Question 15

Pink1

Answer 15

parkinson’s disease

Question 16

trasnthyretin

Answer 16

Transthyretin amyloidosis/ senile systemic amyloidosis

Question 17

superoxide dismutase

Answer 17

amyotrophic lateral sclerosis

Question 18

Amylin

Answer 18

Type 2 diabetes

Question 19

Crystallin

Answer 19

cataracts

Question 20

serum amyloid protein

Answer 20

amyloid A amyloidosis

Question 21

Immunoglobulin light chain

Answer 21

Amyloid light chain amyloidosis

Question 22

enzymes from the group “Cysteine-ASpartic ProteASES” that cleave proteins and peptides and attack the cell membrane, nucleus, and cytoplasm

Answer 22

Caspase