Disease Flashcards
1
Q
What is the cause of Griscelli’s syndrome?
A
RabGTPase activity is mutated so no docking of vesicles
2
Q
What stage of exocytosis is affected by familial haemophagocytic lymphohistiocytosis?
A
Fusion of vesicles to membrane
3
Q
What molecule is mutated in FHL4?
A
Syntaxin 11
4
Q
What protein is mutated in FHL-5?
A
Munc18-2