Active Site

The active site is the region on an enzyme where the actual chemical reaction happens. It's usually made up of a few special amino acids that help transform the molecule the enzyme is working on (called the substrate).

Example

In the enzyme lactase, the active site binds to lactose (milk sugar) and breaks it down into simpler sugars.

Clinical Significance

Variants in active sites typically have severe consequences:

• Loss of enzymatic activity
• Altered substrate specificity
• Changed reaction kinetics
• Complete enzyme dysfunction