In Familial Mediterranean fever, the gene encoding for which of the following protein undergoes mutation?
Correct Answer: Pyrin
Description: In Familial Mediterranean fever, gene coding for pyrin protein is mutated.Five missence mutations are identified. These mutations give rise to 5 amino acid substitutions, in the carboxyterminal pa of pyrin protein. Pyrin protein is expressed solely in neutrophils which are found in large numbers in the inflammatory sites during FMF attacks. Ref: Cloning: Chronology, Abstracts and Guide to Books By Stephen D. Fairbanks, Page 94; The Physical Basis of Biochemistry: The Foundations of Molecular Biophysics By Peter R. Bergethon, Page 545; Principles of Surgical Practice By A. N. Kingsnoh, Page 286
Category:
Pathology
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