DPAGT1

Description

The DPAGT1 gene encodes for the enzyme dolichyl-phosphate mannosyltransferase 1 (DPAGT1), a crucial component in the biosynthesis of N-linked glycans. These glycans are essential for protein folding, stability, trafficking, and function, playing vital roles in a wide range of cellular processes. DPAGT1 catalyzes the transfer of mannose from GDP-mannose to dolichyl phosphate, initiating the assembly of the core oligosaccharide precursor required for N-glycosylation. Mutations in DPAGT1 can disrupt this crucial process, leading to a spectrum of human diseases.

Associated Diseases

• Congenital Disorder of Glycosylation Type Ia (CDG-Ia)
• Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome (MCAHS)
• Glycoprotein Storage Disease Type I
• Spinal Muscular Atrophy Type 3
• Cerebral palsy

Did you know?

DPAGT1 is highly conserved across species, highlighting its fundamental importance in cellular processes.