Collagen, kind I, alpha 1, often known as alpha-1 kind I collagen, is a protein that in people is encoded by the COL1A1 gene. COL1A1 encodes the main element of kind I collagen, the fibrillar collagen present in most connective tissues, together with cartilage.
Contents
Perform[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 kind I procollagen. The COL1A1 gene produces a element of kind I collagen, referred to as the pro-alpha1(I) chain. The cross-links consequence within the formation of very sturdy mature kind 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 situations: