Description: Protein Dysfunction in Human Genetic Disease describes important models of protein dysfunction in human genetic disease. Many of our genes have now been identified and sequenced, and genetic disease can be described in terms of DNA sequence. Research endeavors are now aimed at understanding the structure and function of the protein products of disease genes. Analysis of protein malfunctions in genetic diseases provides an invaluable approach to this undertaking. The book also focuses on DNA mutations that give rise to abnormalities in protein structure and function. Authoritative reviews of specific proteins or protein complexes illustrate how mutations interfere with protein -- protein interactions, ligand and substrate binding, secretion, membrane assembly, intracellular localization and transport, or posttranslational processing underlying the disease process. Genetic and biochemical perspectives are both emphasized. The chapters provide general models to guide researchers who are looking for a function for their disease protein or are seeking to explain a clinical phenotype. This book will also benefit final year and postgraduate students of genetics and biochemistry, and interest all who are curious about protein function.

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