DPM3

DPM3 (Dolichyl-phosphate mannosyltransferase subunit 3) is a protein that in humans is encoded by the DPM3 gene. This protein is part of the dolichol-phosphate mannose (Dol-P-Man) synthase complex. This complex is necessary for the synthesis of Dol-P-Man, which is essential for several glycosylation reactions.

Function

The DPM3 protein is a component of the dolichol-phosphate mannose (Dol-P-Man) synthase complex. This complex catalyzes the reaction that forms Dol-P-Man from GDP-mannose and dolichol phosphate. Dol-P-Man is an essential lipid-linked sugar donor used in several types of glycosylation reactions, including those involved in the synthesis of glycoproteins, glycolipids, and glycosylphosphatidylinositol (GPI) anchors.

Clinical significance

Mutations in the DPM3 gene are associated with a type of congenital disorder of glycosylation known as CDG-Io. This disorder is characterized by severe cardiomyopathy and a marked increase in serum creatine kinase levels. Patients with CDG-Io typically present with severe dilated cardiomyopathy and may also have skeletal myopathy, hepatomegaly, and coagulation abnormalities.

See also

• Dolichol phosphate
• Glycosylation
• Congenital disorder of glycosylation

External links

• NCBI Gene
• UniProt