DISEASES

Disease-gene associations mined from literature

Literature associating COL13A1 and congenital myasthenic syndrome

COL13A1 [ENSP00000381949]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM