ALG8

Description

The ALG8 (ALG8 alpha-1,3-glucosyltransferase) is a protein-coding gene located on chromosome 11.

The human ALG8 gene encodes a member of the ALG6/ALG8 glucosyltransferase family. This protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Ih (CDG-Ih). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.

ALG8 adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. It transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol before it is transferred to the nascent peptide. ALG8 is required for PKD1/Polycystin-1 maturation and localization to the plasma membrane of the primary cilia.

ALG8 is also known as CDG1H, PCLD3.

Associated Diseases

• ALG8-CDG
• Polycystic liver disease 3 with or without kidney cysts
• Congenital disorder of glycosylation, type Ih