Collagen, sort I, alpha 1, also called alpha-1 sort I collagen, is a protein that in people is encoded by the COL1A1 gene. COL1A1 encodes the most important element of sort I collagen, the fibrillar collagen present in most connective tissues, together with cartilage.
Contents
Operate[edit]
This chain combines with one other pro-alpha1(I) chain and likewise with a pro-alpha2(I) chain (produced by the COL1A2 gene) to make a molecule of sort I procollagen. The COL1A1 gene produces a element of sort I collagen, known as the pro-alpha1(I) chain. The cross-links end result within the formation of very sturdy mature sort I collagen fibers.
Gene[edit]
The COL1A1 gene is positioned on the lengthy (q) arm of chromosome 17 between positions 21.3 and 22.1, from base pair 50183289 to base pair 50201632.
Scientific significance[edit]
Mutations within the COL1A1 gene are related to the next circumstances: