QuestionQuestion

a) Using the information presented to you in this course relating to protein structure and function, choose an ENZYME not discussed in class that has an associated disease arising due to a genetically inherited mutation.

b) State only the single amino acid change that leads to the inherited disease. Use the format GLY439ALA.

c) In 150 words or less, clearly and concisely describe the specific effect the single amino acid change has on BOTH the protein's structure and function. Do not discuss the disease symptoms, only the biochemistry associated with the change.

d) List the references used for this assignment (CSE formatting). References must be peer review journal articles and weblinks/wikipedia are not acceptable.

e) DO NOT copy and paste from another document otherwise there will be source code in your answer and your submission will not be graded.


NOTE: In addition to those discussed in class, you are not be allowed to use the following enzymes: alpha-N-acetylhexosaminidase, beta-hexosaminidase A, NatA acetyltransferase, Phenylalanine Hydroxylase (PAH), Superoxidase dismutase I (SOD1)

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Cortisol reductase deficiency 2 as a result of the single amino acid changes (Lys187Asn or Arg137Cys) in 11β-hydroxysteroid dehydrogenase type 1
Enzyme 11β-hydroxysteroid dehydrogenase type 1 catalyzes the bidirectional oxidation-reduction interconversion of cortisol-cortisone, dependent on the level of...

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