ALG3

Ideogram human chromosome 3

ALG3

ALG3 is a gene that encodes an enzyme involved in the process of protein glycosylation. This gene plays a crucial role in the synthesis of dolichol-linked oligosaccharides, which are essential for proper protein folding and function in the cell.

Function

The protein encoded by ALG3 is a member of the glycosyltransferase family and is responsible for transferring glucose residues to dolichol phosphate, a key step in the biosynthesis of glycoproteins. This process is vital for the proper folding and stability of proteins in the endoplasmic reticulum.

Clinical Significance

Mutations in the ALG3 gene have been associated with congenital disorders of glycosylation, a group of genetic disorders characterized by abnormal glycosylation of proteins. These disorders can lead to a range of symptoms, including developmental delays, intellectual disabilities, and various physical abnormalities.

Research

Research on ALG3 and its role in protein glycosylation is ongoing, with scientists investigating potential therapeutic strategies for treating congenital disorders of glycosylation caused by mutations in this gene. Understanding the function of ALG3 may provide insights into the development of targeted therapies for these rare genetic conditions.

See also

• Glycosylation
• Protein folding
• Endoplasmic reticulum