COL1A1 Gene … Normal Function

The COL1A1 gene provides instructions for making ‘type I collagen’. In my earlier post I already discussed about the Collagens — Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera). Type I collagen is the most abundant form of collagen in the human body.

The COL1A1 gene produces pro-α1 (I) chain in type I collagen.

Collagens begin as procollagen molecules, which must be processed by enzymes outside the cell to remove extra protein segments from their ends. Each rope-like procollagen molecule is made up of 3 chains: 2 pro-α1(I) chains, produced from the COL1A1 gene, and 1 pro-α2(I) chain, produced from the COL1A2 gene. After procollagens are processed, the resulting mature collagen molecules arrange themselves into long, thin fibrils. Individual collagen molecules are cross-linked to one another within these fibrils. The formation of cross-links results in very strong type I collagen fibrils, which are found in the spaces around cells.

Source: www.ghr.nlm.nih.gov