ALG12 : ALG12 alpha-1,6-mannosyltransferase
Description
The ALG12 gene encodes an enzyme called dolichyl-phosphate N-acetylglucosamine transferase, crucial for the first step in protein glycosylation. This process involves attaching sugar molecules to proteins, playing vital roles in cell signaling, protein folding, and immune function. ALG12 catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to dolichyl phosphate, forming the first GlcNAc residue on the dolichol phosphate carrier lipid. This initiates the assembly of a complex oligosaccharide chain that will eventually be transferred to a protein.
Associated Diseases
Did you know?
Mutations in the ALG12 gene are rare and can lead to a spectrum of disorders ranging from mild to severe.