The Col I gene itself takes up a triple-helical conformation due to its Glycine-X-Y structure, x and y being any type of amino acid.
The creation process of type I Collagen begins with the production and the combination of two separate subunits, called the pro-alpha1(I) and pro-alpha2(I) chains.
[3] This transcriptional process takes place within the cell's endoplasmic reticulum and must undergo post-translational modifications in order to make the final type I collagen product.
[4] The procollagen complex is then modified by different enzyme proteinases which cleave N and C terminal pro-peptides that are present on either side of the molecule.
Caffey Disease: This condition is caused by a mutation in the COL1alpha gene that replaces arginine with cysteine at the 836 protein site.
[10] See Collagen, type I, alpha 1#Clinical significance Markers used to measure bone loss are not easily testable.