| Modification Notes |
ALG12 (asparagine-linked glycosylation 12 homolog), also known as ECM39 or membrane protein SB87, is a 488 amino acid member of the glycosyltransferase 22 family that functions as a mannosyltransferase required for proper protein glycosylation. ALG12 is a multi-pass membrane protein that is expressed in fibroblasts and localizes to the endoplasmic reticulum (ER). Specifically, ALG12 catalyzes the addition of å1,6 mannose to dolichol-linked Man7GlcNAc2. Defects in ALG12 disrupt protein N-glycosylation and result in congenital disorder of glycosylation type 1G (CDG1G). CDG1G is a multisystem disease characterized by under-glycosylated serum proteins. N-glycoproteins play important roles in cell maintenance, embryonic development and differentiation. A disease affecting the proper function of these proteins can lead to coagulation disorders, psychomotor retardation, hypotonia, immunodeficiency and dysmorphic features. |