COL12A1 gene

collagen type XII alpha 1 chain

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This 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, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

From UniProt:

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.

From NCBI Gene:

  • Bethlem myopathy 2
  • Ullrich congenital muscular dystrophy 2

From UniProt:

Bethlem myopathy 2 (BTHLM2): A form of Bethlem myopathy, a benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. [MIM:616471]

Ullrich congenital muscular dystrophy 2 (UCMD2): A form of Ullrich muscular dystrophy, a congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. [MIM:616470]

Cytogenetic Location: 6q12-q13, which is the long (q) arm of chromosome 6 between positions 12 and 13

Molecular Location: base pairs 75,084,326 to 75,206,262 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q12-q13, which is the long (q) arm of chromosome 6 between positions 12 and 13
  • BA209D8.1
  • BTHLM2
  • COL12A1L
  • DJ234P15.1
  • UCMD2