COL1A2 : collagen type I alpha 2 chain
Description
The COL1A2 (collagen type I alpha 2 chain) is a protein-coding gene located on chromosome 7.
The COL1A2 gene provides instructions for making a part of type I collagen, a key protein for strengthening and supporting many tissues like cartilage, bone, tendons, skin, and the sclera (white part of the eye). Type I collagen is the most abundant collagen in the human body. The COL1A2 gene produces a component called the pro-α2(I) chain, which forms a triple-stranded molecule with two other chains (pro-α1(I) chains from the COL1A1 gene) to make type I collagen. These triple-stranded molecules are processed into mature collagen fibers through a series of steps inside and outside cells. The collagen fibers then interact with each other, forming strong, stable bonds called cross-links, which give type I collagen its remarkable strength.
Type I collagen, encoded by COL1A2, is a member of group I collagen, also known as fibrillar forming collagen.
COL1A2 is also known as EDSARTH2, EDSCV, OI4.
Associated Diseases
- Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
- Ehlers-Danlos syndrome, arthrochalasia type, 2
- Osteogenesis imperfecta, type II
- Osteogenesis imperfecta, type IV
- Osteogenesis imperfecta, type III
- OSTEOPOROSIS
- Arthrochalasia Ehlers-Danlos syndrome
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
- Cardiac-valvular Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome
- Osteogenesis imperfecta
