DPM2 encodes dolichyl-phosphate mannosyltransferase subunit 2, regulatory (84 aa). Regulates the biosynthesis of dolichol phosphate-mannose. Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1. Highest expression in Thyroid (86.9 TPM) and Cells Cultured fibroblasts (64.0 TPM).

Congenital muscular dystrophy with intellectual disability and severe epilepsy has been associated with mutations in the DPM2 gene on chromosome 9.

The DPM2 protein participates in Defective DPM2 causes DPM2-CDG, Synthesis of dolichyl-phosphate mannose, and Defective DPM3 causes DPM3-CDG pathways.

DPM2 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for DPM2 is available. Testing is considered supportive for diagnosis.

Phenotype severity distribution: 19 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for congenital muscular dystrophy with intellectual disability and severe epilepsy.

1 publication has been identified in PubMed for congenital muscular dystrophy with intellectual disability and severe epilepsy. Research spans Review / Meta-Analysis (100%).

Recent Publications

• Gandoy-Fieiras N (2025). [PMID: 40993721](https://pubmed.ncbi.nlm.nih.gov/40993721/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]