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What do you call a condition caused by mutations in one or more genes?

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genetic disorder

Mutations can result in errors in protein sequence, creating partially or completely non-functional proteins. These can obviously result in harm to the cell and organism. To function correctly and maintain homeostasis , each cell depends on thousands of proteins to all work together to perform the functions of the cell. When a mutation alters a protein that plays a critical role in the cell, the cell, tissue, organ, or organ system may not function properly, resulting in a medical condition. A condition caused by mutations in one or more genes is called a genetic disorder or genetic disease. However, only a small percentage of mutations cause genetic disorders; most have no impact on health. If a mutation does not change the protein sequence or structure, resulting in the same function, it will have no effect on the cell. Often, these mutations are repaired by the DNA repair system of the cell. Each cell has a number of pathways through which enzymes recognize and repair mistakes in DNA   Figure below  . Because DNA can be damaged or mutated in many ways, the process of DNA repair is an important way in which the cell protects itself to maintain proper function.

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