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Definition

A type of protein that catalyses chemical reactions within an organism.

Use in clinical context

Enzymes are crucial to the functions of cells. Without enzymes many reactions would either fail to happen or occur too slowly and erratically to be useful. As proteins, enzymes are encoded for by genes within DNA and variation within this DNA can affect their form and function with potentially serious health effects. For example, Tay Sachs is a rare inherited disorder caused by variants in a gene encoding part of an enzyme involved in preventing the toxic build-up of fatty substances in the brain.

Last updated on 29th May, 2019