COL12A1 Antibody – Rabbit Polyclonal

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]

COL12A1: 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. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Extracellular matrix; Secreted

Chromosomal Location of Human Ortholog: 6q12-q13

Cellular Component: collagen type XII; extracellular matrix; extracellular space; endoplasmic reticulum lumen; extracellular region; vesicle

Molecular Function: extracellular matrix structural constituent conferring tensile strength

Biological Process: collagen catabolic process; extracellular matrix disassembly; extracellular matrix organization and biogenesis; collagen fibril organization; cell adhesion; skeletal development

Disease: Ullrich Congenital Muscular Dystrophy 2; Bethlem Myopathy 2