Overactivity

Too much of the protein’s normal activity

Overactivity is a gain of function in which the mutant protein does more of its normal activity, for example a constitutively active enzyme or an ion channel that stays open, rather than acquiring a new activity or losing function. Adding back wild-type protein does not correct the excess. In CMT, dominant RAB7A alleles cause CMT2B through an overactive GTPase.

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