DISEASES

Disease-gene associations mined from literature

Literature associating COL12A1 and exostosis

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,  D6RGG3,  H0Y5N9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM