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Loss-Of-Function Mutation

Meaning

A Loss-Of-Function Mutation is a type of genetic alteration in which the resulting gene product, typically a protein or enzyme, has reduced or completely abolished normal function. This reduction in activity can range from mild inefficiency to total non-functionality, often leading to a reduction in the required physiological output of a critical pathway. In the context of hormonal health, these mutations can severely compromise receptor sensitivity or hormone synthesis.