Literature associating COL13A1 and congenital myasthenic syndrome
Collagen alpha-1(XIII) chain; Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching morphogenesis of lung. Binds heparin. At neuromuscular junctions, may play a role in acetylcholine receptor clustering; Collagens
Synonyms: COL13A1, COL13A1p, hCOL13A1, A0A024QZL3, A0A024QZP5 ...