DISEASES

Disease-gene associations mined from literature

Literature associating COL19A1 and Ullrich congenital muscular dystrophy

COL19A1 [ENSP00000480474]

Collagen alpha-1(XIX) chain; May act as a cross-bridge between fibrils and other extracellular matrix molecules. Involved in skeletal myogenesis in the developing esophagus. May play a role in organization of the pericellular matrix or the sphinteric smooth muscle. ; Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.

Synonyms:  COL19A1,  COL19A1p,  hCOL19A1,  A0A087WVJ7,  Q14993 ...

Linkouts:  STRING  Pharos  UniProt