Fast Facts for Board Review

Genetic Pathways, Part 1

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2. Mutation of this enzyme leads to uncontrolled proteolytic activity causing degradation of lamellar body lipid processing enzymes.

a. FALDH (fatty aldehyde dehydrogenase)

b. LEKTI (lympho-epithelial Kazal-type-related inhibitor)

c. PEX7 (perioxsomal biogenesis factor 7)

d. PHYH (phytanoyl-CoA hydroxylase)

e. NSDHL (NAD[P] dependent steroid dehydrogenase-like)

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