DPM3

Chr 1AR

dolichyl-phosphate mannosyltransferase subunit 3, regulatory

Also known as: CDG1O, MDDGB15, MDDGC15

NCBI Gene: 54344 ENSG00000179085 UniProt: Q9P2X0 OMIM: 605951

The protein is a stabilizer subunit of the dolichol-phosphate mannose synthase complex that tethers the catalytic subunit to the endoplasmic reticulum, essential for synthesizing mannose donors required for proper glycosylation of proteins including dystroglycan. Mutations cause autosomal recessive muscular dystrophy-dystroglycanopathy, presenting as either congenital muscular dystrophy with intellectual disability or limb-girdle muscular dystrophy. This affects both muscle and brain development due to defective glycosylation of dystroglycan and other glycoproteins.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15MIM #618992

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15MIM #612937

Clinical highlights

Gene-disease validity (ClinGen)

DPM3-congenital disorder of glycosylation · ARModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.40

LOEUF

LOF

Mechanism· G2P