COL12A1

Description

The COL12A1 (collagen type XII alpha 1 chain) is a protein-coding gene located on chromosome 6.

The COL12A1 gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, modifying the interactions between collagen I fibrils and the surrounding matrix. Mutations in COL12A1 are linked to Bethlem myopathy 2 (Ehlers-Danlos syndrome myopathic type) and Ullrich congenital muscular dystrophy 2. Different isoforms are produced through alternative splicing.

Type XII collagen interacts with type I collagen-containing fibrils. The COL1 domain is associated with the surface of the fibrils, while the COL2 and NC3 domains are localized in the perifibrillar matrix.

COL12A1 is also known as BA209D8.1, BTHLM2, COL12A1L, DJ234P15.1, EDSMYP, UCMD2.

Associated Diseases

• Bethlem muscular dystrophy
• Myopathic Ehlers-Danlos syndrome
• Ullrich congenital muscular dystrophy
• Ullrich congenital muscular dystrophy 2
• Bethlem myopathy 2