GUSB : glucuronidase beta

Description

The GUSB gene provides instructions for making an enzyme called beta-glucuronidase. This enzyme is crucial for breaking down complex sugar molecules in lysosomes, which are the recycling centers of cells. Lysosomes contain powerful enzymes that break down waste products and cellular debris. Beta-glucuronidase is essential for the breakdown of a specific type of sugar molecule called glucuronic acid. When the GUSB gene is mutated, beta-glucuronidase is either missing or not functional, leading to a buildup of glucuronic acid in lysosomes. This buildup can damage cells and tissues, causing various health problems.

Associated Diseases

• Mucopolysaccharidosis Type VII (MPS VII, Sly Syndrome)
• Sanfilippo Syndrome Type B
• Hunter Syndrome
• Hurler Syndrome

Did you know?

GUSB is one of the most commonly mutated genes involved in lysosomal storage disorders.