ALG6

ALG6 refers to the gene ALG6, also known as ALG6, dolichol-linked oligosaccharide reductase subunit 1. This gene encodes a protein that plays a crucial role in the biosynthesis of N-linked oligosaccharides, which are complex carbohydrate chains attached to proteins. The protein product of ALG6 is an enzyme involved in the reduction of a double bond in the oligosaccharide precursor chain. This reduction step is essential for the proper assembly of the dolichol-linked oligosaccharide, a key intermediate in the N-linked glycosylation pathway. Glycosylation is a vital post-translational modification that affects protein folding, stability, function, and localization. Mutations in the ALG6 gene have been associated with a rare congenital disorder known as Congenital Disorders of Glycosylation type II (CDG-II). Individuals with CDG-II often experience a range of severe developmental abnormalities affecting multiple organ systems, including the brain, liver, and eyes. The specific clinical manifestations can vary depending on the nature and severity of the mutation. Research into ALG6 and its role in glycosylation continues to provide insights into the complex machinery of protein modification and its impact on human health.