COL12A1 (Collagen Type XII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL12A1 include Bethlem Myopathy 2 and Ullrich Congenital Muscular Dystrophy 2. Among its related pathways are Collagen chain trimerization and Phospholipase-C Pathway. GO annotations related to this gene include extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL14A1.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.