DPM2

Description

The DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory) is a protein-coding gene located on chromosome 9.

DPM2, the gene encoding Dolichol phosphate-mannose biosynthesis regulatory protein, plays a vital role in the production of dolichol phosphate-mannose (Dol-P-Man), a key molecule for glycosylation in the endoplasmic reticulum (ER). Dol-P-Man acts as a donor of mannose residues, essential for the proper expression of GPI-anchored proteins, N-linked glycosylation, and α-dystroglycan O-mannosylation. DPM2 is a hydrophobic protein with two predicted transmembrane domains and a putative ER localization signal. It associates with DPM1, a crucial protein in the Dol-P-Man synthesis pathway, enhancing its stability and ER localization. Mutations in DPM2 are linked to congenital disorders of glycosylation.

DPM2 regulates the biosynthesis of dolichol phosphate-mannose (DPM), a crucial molecule for glycosylation. It is a subunit of the DPM synthase complex, essential for the proper localization and stability of DPM1. DPM2 is also a part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, which initiates GPI biosynthesis by transferring N-acetylglucosamine. DPM2 may regulate the activity of the GPI-GnT complex.

DPM2 is also known as CDG1U.

Associated Diseases

• Congenital disorder of glycosylation, type Iu
• Congenital muscular dystrophy with intellectual disability and severe epilepsy