ALG12 alpha-1,6-mannosyltransferase (ALG12)

ALG12 alpha-1,6-mannosyltransferase (ALG12) is an enzyme of the glycosyltransferase 22 family localized to the lumen-facing side of the endoplasmic reticulum (ER) membrane, where it adds the eighth mannose residue in an alpha-1,6 linkage to the growing lipid-linked oligosaccharide (LLO) precursor required for N-linked protein glycosylation[1][2][3]. Mutations in the ALG12 gene cause congenital disorder of glycosylation type Ig (ALG12-CDG), an autosomal recessive syndrome characterized by multiorgan involvement including intellectual disability, hypotonia, dysmorphic features, coagulation abnormalities, immunodeficiency, and urogenital anomalies in males due to improperly formed N-glycans[1][2]. No approved therapies exist; diagnosis relies on a combination of genetic, transferrin glyco-profile, and biochemical analyses[1][2][3]. The enzyme does not have known drug ligands or direct therapeutic targeting but serves as a crucial node in glycoprotein biosynthesis—its dysfunction reveals the essential nature of precise glycan elaboration in human physiology[1][2][3].

Other names

ECM39CDG1GPP14673HALG12Asparagine-linked glycosylation 12 homologDolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferaseDolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferaseDol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferaseMannosyltransferase ALG12 homologMembrane protein SB87Dol-P-Man dependent alpha-1,6-mannosyltransferaseAsparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)Dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferaseEC 2.4.1.260

not applicable (no drugs currently target this enzyme)