What is COL1A1 and COL1A2?
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What is COL1A1 and COL1A2?
A component of type I collagen called the pro-α1(I) chain is produced from the COL1A1 gene. Collagens begin as rope-like procollagen molecules that are each made up of three chains. Type I collagen is composed of two pro-α1(I) chains and one pro-α2(I) chain (which is produced from the COL1A2 gene).
What chromosome is COL1A2 on?
Chromosome 7
Collagen, type I, alpha 2
| COL1A2 | |
|---|---|
| Aliases | COL1A2, OI4, collagen type I alpha 2, collagen type I alpha 2 chain, EDSCV, EDSARTH2 |
| External IDs | OMIM: 120160 MGI: 88468 HomoloGene: 69 GeneCards: COL1A2 |
| Gene location (Human) Chr. Chromosome 7 (human) Band 7q21.3 Start 94,394,895 bp End 94,431,227 bp |
Where is COL1A1 located?
chromosome 17
Gene. The COL1A1 gene is located on the long (q) arm of chromosome 17 between positions 21.3 and 22.1, from base pair 50183289 to base pair 50201632.
What causes blue sclera in osteogenesis imperfecta?
Blue sclera is the most commonly known ocular sign for osteogenesis imperfecta and it is caused by thin scleral collagen allowing the underlying darker choroid vasculature to be seen. Patients with OI have shown a reduction in thickness of the corneal and scleral collagen fibers which can result in low ocular rigidity.
What is the difference between collagen type 1 2 and 3?
The main difference between collagen 1 2 and 3 is that collagen 1 is most abundant in bones, tendons, ligaments, and in the skin while collagen 2 occurs in hyaline and articular cartilages and collagen 3 is the main component of reticular fibers which make a supporting mesh in soft tissues and organs.
What is the difference between type 1 and Type 2 collagen?
Type 1 collagen is most abundant in Marine Collagen. Type 2 Collagen: Makes up a majority of the protein molecules in your cartilage, the connective tissue that protects your bones at the joints, in your spinal disks, and your eyes, making it a potent way to support joint health.
What is the function of COL1A2?
Normal Function The COL1A2 gene provides instructions for making part of a large molecule called type I collagen. 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).
Is Osteogenesis Imperfecta A point mutation?
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. Hum Genet. 1991 May;87(1):33-40.
What does COL1A2 gene do?
The COL1A2 gene provides instructions for making part of a large molecule called type I collagen. 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).
Where does type 3 collagen come from?
Type 3 Collagen: Is found in large quantities in your intestines, muscles, blood vessels, and the uterus. It’s most often used with type I collagen for gut healing and to improve skin elasticity and hydration. Bovine Collagen Peptides is a great source of type 1 and 3 collagen.
How long does someone with osteogenesis imperfecta live?
The median survival time in the OI cohort was 72.4 years for males (compared to 81.5 years in the reference population) and 77.4 for females (compared to 84.5 in the reference population).
Is osteogenesis imperfecta a form of dwarfism?
Osteogenesis imperfecta (OI) Type III is a dwarfism condition, with adults generally reaching a height of three feet, although profound short stature is often associated with the other three types as well. Hearing loss is common among adults.
What does Type 1 collagen do?
Type I collagen is by far the most abundant protein in all vertebrates. It assembles into fibers that form the structural and mechanical scaffold (matrix) of bone, skin, tendons, cornea, blood vessel walls and other connective tissues.
