Protein Disorder and Human Genetic Disease

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Book Chapter

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Intrinsic Disorder, Intrinsically Disordered Protein, Diseasome, Unfoldome, Genetic Disease, Protein–protein Interaction Networks, Pre-molten Globule, Random Coil, Entropic Chain

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Intrinsically disordered proteins (IDPs) are biologically active proteins that lack stable structure under physiological conditions. They are involved in crucial biological functions related to regulation, recognition, signalling and control of various events in the cell. Misbehaviour of IDPs is commonly associated with various human diseases. IDPs represent a prominent part of the human diseasome, a network that links the human disease phenome (which includes all the human genetic diseases) with the human disease genome (which contains all the disease-related genes), where they could be grouped into a unique entity, the human-genetic-disease-associated unfoldome. The exonic single nucleotide variations (SNVs) may induce a significant change in the tendency of a protein region to be structured or disordered, thereby causing malfunction of such a protein and contributing to the disease risk. Therefore, IDPs are abundant in genetic diseases, play crucial roles in pathogenesis of these maladies, and clearly require special attention.

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Citation / Publisher Attribution

Protein Disorder and Human Genetic Disease, Encyclopedia of Life Sciences, John Wiley & Sons