Definition of Loss Of Function Mutation

Loss of function mutation is the variation that is occurred in the sequence of the genes which has made the allele lose its function. The loss of function mutations implies a great impact on the regulatory pathways and causes dysregulation in cellular functions such as cell division, differentiation, and the death of the cells.


These dysregulations eventually contribute to the production of tumors. The normal alleles generally encode a particular product that is responsible for a specific biological function but when mutations occur on these alleles, the function is lost. The loss of function mutations is mostly recessive.

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