DPM3
Description
The DPM3 gene encodes dolichyl-phosphate mannosyltransferase 3, a crucial enzyme involved in the biosynthesis of dolichol-linked oligosaccharides. These oligosaccharides are essential for protein glycosylation, a vital process in numerous cellular functions, including protein folding, trafficking, and signal transduction. DPM3 plays a critical role in this pathway by catalyzing the transfer of mannose residues from GDP-mannose to dolichyl-phosphate, a lipid carrier molecule. The proper function of DPM3 is essential for maintaining cellular homeostasis and normal physiological processes.
Associated Diseases
- Congenital Disorder of Glycosylation (CDG) Type Ie
- Intellectual Disability
- Neurodevelopmental Disorders
Did you know?
Mutations in the DPM3 gene are linked to a rare genetic disorder known as Congenital Disorder of Glycosylation Type Ie (CDG-Ie), characterized by severe neurological impairments and developmental delays.
