NEU1 : neuraminidase 1
Description
The NEU1 gene provides instructions for making an enzyme called N-acetylglucosaminidase alpha, crucial for lysosomal function. This enzyme breaks down complex sugar molecules in the lysosome, a cellular compartment responsible for waste recycling. Mutations in NEU1 can lead to a buildup of these undigested sugars, causing a range of health issues.
Associated Diseases
Did you know?
The NEU1 gene is located on chromosome 17, a chromosome known to harbor several genes associated with rare genetic diseases.