Help answering questions 2,3,4,5 please ! 1) Identity of the protein – ANSWER -

Question

Help answering questions 2,3,4,5 please !

1) Identity of the protein – ANSWER - Beta-Glucocerebrosidase protein

2) The normal function of the protein?

3) How the properties of the amino acid in the wild-type protein compare to the properties of the substituted amino acid in the malfunctioning protein

4) How the amino acid change could lead to the protein’s structure and/or function being altered

5) How the malfunctioning protein leads to the disease symptoms? (The protein that is affected by Gaucher’s Disease is the Beta-Glucocerebrosidase protein.)

Explanation / Answer

2) Beta-Glucocerebrosidase is an enzyme that cleaves beta-glucosidic linkage of glucocerebroside which is a metabolic intermediate of glycolipid metabolism. Glucocerebroside is cleaved to form Glucose and ceramide. The enzyme is localized in lysosome.

3) Type 1 Gaucher disease (non-neuronopathic type) has amino acid 370 asparagine (N) being replaced by serine (S). When leucine is changed to proline at amino acid 444 (L444P) it is associated with the neuronopathic forms of Gaucher disease.

4) Aminoacid substiution as a result of mutation in coding genes alters the structural and functional character of protein by decreasing its binding affinity to the substrate or catalytic ability. Substitution affects the ability of binding of subtrate to the enzyme.

5) The abnormal Beta-Glucocerebrosidase enzyme cannot function normally to cleave Glucocerebroside. So Glucocerebroside get accumulated in the cells causing Guacher disease which results in tissue and organ damage. Guacher disease is also called as lysosomal storage disease.

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