DPM2
DPM2 (Dolichyl-phosphate Mannosyltransferase Subunit 2) is a protein coding gene located on chromosome 9q34.11 in humans. The protein encoded by this gene is part of the dolichol-phosphate mannose (DPM) synthase complex. This complex is involved in the biosynthesis of glycoproteins, which play a crucial role in many biological processes.
Function[edit | edit source]
The DPM2 gene, along with DPM1 and DPM3, forms the DPM synthase complex. This complex catalyzes the reaction of dolichol phosphate and GDP-mannose to form dolichol-phosphate-mannose (DPM). DPM is an essential lipid intermediate in the glycosylation pathway. It acts as a mannose donor in the first step of the biosynthesis of the glycan moiety of glycoproteins.
Clinical Significance[edit | edit source]
Mutations in the DPM2 gene are associated with a type of Congenital Disorders of Glycosylation (CDG), specifically CDG type Ie (CDG-Ie). CDG-Ie is a multisystem disorder characterized by under-glycosylated serum glycoproteins. Clinical features include severe psychomotor retardation, seizures, strabismus, and cerebellar hypoplasia.
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