DAG1 encodes dystroglycan 1 (895 aa). The dystroglycan complex is involved in a number of signaling events and processes including laminin deposition and extracellular matrix assembly, acetylcholine receptor clustering, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, epithelial polarization, and epithelium branching morphogenesis. Highest expression in Nerve Tibial (118.7 TPM) and Artery Tibial (71.1 TPM).

Autosomal recessive limb-girdle muscular dystrophy type 2P is associated with mutations in the DAG1 gene on chromosome 3.

The DAG1 protein participates in DAG1 glycosylations pathway.

DAG1 is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Transporter categories) with score 52.2.

Genetic testing for DAG1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive limb-girdle muscular dystrophy type 2P has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 3 very common features, 6 common features.

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

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

1 publication has been identified in PubMed for autosomal recessive limb-girdle muscular dystrophy type 2P. Research spans Diagnostic / Biomarker (100%).

Recent Publications

• Mohan S (2024). [PMID: 39215466](https://pubmed.ncbi.nlm.nih.gov/39215466/). *Ann Clin Transl Neurol*. [Diagnostic / Biomarker]