SIAE
SIAE Gene: A Comprehensive Guide
Description
The SIAE gene, also known as the sialic acid acetyltransferase gene, plays a crucial role in the production of sialic acid, a sugar molecule found on the surface of cells. Sialic acid plays a variety of important functions, including cell recognition, adhesion, and signaling.
Associated Diseases
Mutations in the SIAE gene have been linked to several diseases, including:
- Sialuria: A rare condition characterized by the excessive excretion of sialic acid in the urine.
- Infantile sialic acid storage disease: A severe neurological disorder that leads to developmental delays, seizures, and early death.
- Congenital disorder of glycosylation: A group of disorders that affect the way cells attach sugar molecules to proteins and lipids.
- Leukemia: Certain mutations in the SIAE gene may be associated with an increased risk of acute myeloid leukemia.
Did you Know ?
Only about 1 in 500,000 people are affected by sialuria, making it an extremely rare disease.
