Question

Name 2 human diseses cause bt the absence of protein

Answer 1

The harmful effect of the misfolded proteinmay be due to: (a) loss of function, as observed in cystic fibrosis (CF) and α1‐antitrypsin deficiency; or (b) deleterious 'gain of function' as seen in many neurodegenerative diseases such as Alzheimer's disease (AD), Parkinson'sdisease (PD) and Huntington's disease(HD).

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