NAGLU : N-acetyl-alpha-glucosaminidase
Description
The NAGLU gene provides instructions for making an enzyme called alpha-N-acetylglucosaminidase (NAGLU). This enzyme plays a crucial role in lysosomes, which are cellular compartments responsible for breaking down and recycling waste products. NAGLU specifically breaks down a sugar molecule called GlcNAc, which is found in various complex carbohydrates. Deficiencies in NAGLU activity can lead to the accumulation of these undigested molecules, causing lysosomal storage disorders.
Associated Diseases
Did you know?
Sanfilippo syndrome type B, caused by mutations in the NAGLU gene, is a rare genetic disorder characterized by severe neurological and developmental impairments.
