LARGE1 encodes LARGE xylosyl- and glucuronyltransferase 1 (756 aa). Bifunctional glycosyltransferase with both alpha-1,3-xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the maturation of alpha-dystroglycan (DAG1) by glycosylation leading to DAG1 binding to laminin G-like domain-containing extracellular proteins with high affinity. Highest expression in Colon Sigmoid (22.7 TPM) and Uterus (20.5 TPM).

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 is associated with mutations in the LARGE1 gene on chromosome 22.

The LARGE1 protein participates in LARGE E669Gfs*26 pathway.

LARGE1 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for LARGE1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 14 common features.

No clinical trials have been registered for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6.

18 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6. Research spans Case Report / Case Series (50%), Epidemiology / Natural History (17%), and Clinical Trial Publication (11%).

Recent Publications

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

• Jayanna S (2026). [PMID: 41930014](https://pubmed.ncbi.nlm.nih.gov/41930014/). *Oman J Ophthalmol*. [Case Report / Case Series]

• Schroeder RL (2026). [PMID: 41064951](https://pubmed.ncbi.nlm.nih.gov/41064951/). *Vet Pathol*. [Basic Science / Preclinical]

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

• Sawangkum P (2025). [PMID: 41399054](https://pubmed.ncbi.nlm.nih.gov/41399054/). *J Clin Ultrasound*. [Case Report / Case Series]

• Sato T (2025). [PMID: 39566997](https://pubmed.ncbi.nlm.nih.gov/39566997/). *Tohoku J Exp Med*. [Epidemiology / Natural History]

• Sugiyama R (2025). [PMID: 39798169](https://pubmed.ncbi.nlm.nih.gov/39798169/). *Neuromuscul Disord*. [Case Report / Case Series]

• Murakami T (2025). [PMID: 40814256](https://pubmed.ncbi.nlm.nih.gov/40814256/). *Neuropsychopharmacol Rep*. [Clinical Trial Publication]

• Ishigaki K (2025). [PMID: 40011677](https://pubmed.ncbi.nlm.nih.gov/40011677/). *Sci Rep*. [Epidemiology / Natural History]

• Messina A (2025). [PMID: 40515822](https://pubmed.ncbi.nlm.nih.gov/40515822/). *Neuroradiology*. [Epidemiology / Natural History]