The gene dag1 encodes dystroglycan 1, a transmembrane glycoprotein localized to the cell membrane. The protein functions as a receptor for extracellular matrix proteins like laminin, contributing to th...[+]

The gene dag1 encodes dystroglycan 1, a transmembrane glycoprotein localized to the cell membrane. The protein functions as a receptor for extracellular matrix proteins like laminin, contributing to the structural integrity of the basement membrane. It is involved in cell adhesion processes during development, with expression observed in tissues including the pronephros and somites. [-]

             autosomal recessive limb-girdle muscular dystrophy type 2P

          MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES),

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD