Literature associating COL12A1 and Ullrich congenital muscular dystrophy
COL12A1 [ENSP00000325146]
Collagen alpha-1(XII) chain; Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix; Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
Synonyms: COL12A1, COL12A1p, hCOL12A1, A0A087X0A8, D6RGG3 ...