B3GALNT2 encodes beta-1,3-N-acetylgalactosaminyltransferase 2 (500 aa). Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans.

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 is caused by mutations in the B3GALNT2 gene on chromosome 1.

The B3GALNT2 protein participates in B3GALNT2 transfers GalNAc to GlcNAc-Man-DAG1 and POMGNT2 transfers GlcNAc to Man-DAG1 pathways.

B3GALNT2 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for B3GALNT2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 4 common features.

No clinical trials have been registered for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11.

6 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (33%), and Clinical Trial Publication (17%).

Recent Publications

• Zhang J (2026). [PMID: 42158226](https://pubmed.ncbi.nlm.nih.gov/42158226/). *Clin Case Rep*. [Case Report / Case Series]

• Sharaf-Eldin W (2025). [PMID: 39998573](https://pubmed.ncbi.nlm.nih.gov/39998573/). *J Mol Neurosci*. [Review / Meta-Analysis]

• Liu FQ (2025). [PMID: 40186435](https://pubmed.ncbi.nlm.nih.gov/40186435/). *J Ultrasound Med*. [Clinical Trial Publication]

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

• Lee SJ (2025). [PMID: 41188778](https://pubmed.ncbi.nlm.nih.gov/41188778/). *BMC Ophthalmol*. [Case Report / Case Series]

• Aref F (2024). [PMID: 39253050](https://pubmed.ncbi.nlm.nih.gov/39253050/). *Radiol Case Rep*. [Case Report / Case Series]