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.

Covered on Genetics Home Reference:

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: 6q13-q14.1, which is the long (q) arm of chromosome 6 between positions 13 and 14.1

Molecular Location: base pairs 75,084,326 to 75,206,262 on chromosome 6 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 6q13-q14.1, which is the long (q) arm of chromosome 6 between positions 13 and 14.1
  • BA209D8.1
  • BTHLM2
  • COL12A1L
  • DJ234P15.1
  • EDSMYP
  • UCMD2