The NEU1 gene is found in a special part of chromosome 6 called the major histocompatibility complex. Changes or mutations in the NEU1 gene cause a lower amount of an important enzyme called alpha-N-acetylneuraminidase, or sialidase. This enzyme helps break down certain sugar and fat molecules in the body. When it doesn’t work well, these substances build up in tissues and are also found in the urine. This buildup can cause problems in the body.
NEU1