DPAGT1

DPAGT1 stands for dolichol-phosphate N-acetylglucosaminephosphotransferase 1. It is an enzyme that plays a crucial role in the initial step of N-linked glycosylation in eukaryotic cells. This enzyme catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to dolichol phosphate, forming dolichol-phosphate N-acetylglucosamine. This reaction occurs on the cytoplasmic face of the endoplasmic reticulum membrane. The resulting dolichol-phosphate N-acetylglucosamine is a lipid-linked oligosaccharide precursor that is essential for the synthesis of many glycoproteins. These glycoproteins are involved in a wide range of biological processes, including cell-cell recognition, immune response, and protein folding.

Mutations in the DPAGT1 gene have been linked to a group of rare genetic disorders known as congenital disorders of glycosylation (CDGs). These disorders are characterized by a wide spectrum of clinical manifestations, often affecting neurological development, liver function, and multisystem organs. The severity of CDGs caused by DPAGT1 mutations can vary depending on the specific mutation and its impact on enzyme activity. Research into DPAGT1 function and its associated disorders continues to be an active area of study, aiming to improve diagnosis and develop therapeutic strategies.