Where is COL2A1 found?
Where is COL2A1 found?
The cross-linkages result in the formation of very strong mature type II collagen fibers. The COL2A1 gene is located on the long (q) arm of chromosome 12 between positions 13.11 and 13.2, from base pair 46,653,017 to base pair 46,684,527.
Where is COL1A1 gene located?
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 does the 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).
What is the name of the polypeptide that is encoded by the COL2A1 gene?
The COL2A1 gene provides instructions for making one component of type II collagen, called the pro-alpha1(II) chain. Type II collagen adds structure and strength to the connective tissues that support the body’s muscles, joints, organs, and skin.
Where is type 2 collagen found?
cartilage
Since type II collagen is found primarily in cartilage, the nucleus pulposus, and the vitreous of the humor of the eye, it was postulated that type II collagen defects would be found in those disorders in which these specific tissues are affected (13,14).
What is the ACAN gene?
The ACAN gene provides instructions for making the aggrecan protein. Aggrecan is a type of protein known as a proteoglycan, which means it has several sugar molecules attached to it. It is the most abundant proteoglycan in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development.
Where is collagen type 1 found?
bone
Collagen type I is present in skin, tendons, vasculature, as well as organs such as lungs, heart and others, and forms the main component in the organic portion of the calcified tissue of bone and teeth [1, 3].
Where are COL1A1 and COL1A2 located?
About 90 % of the mutations are related to alterations in the COL1A1 and COL1A2 genes, located at chromosome 17q21. 33 and 7q21. 3, respectively [2, 3]. These genes code for the α1/α2 chains of type 1 collagen [1, 4].
What gene makes collagen?
The COL1A1 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).
What chromosome is COL1A2 on?
Collagen, type I, alpha 2
| COL1A2 | ||
|---|---|---|
| Location (UCSC) | Chr 7: 94.39 – 94.43 Mb | Chr 6: 4.5 – 4.54 Mb |
| PubMed search | ||
| Wikidata | ||
| View/Edit Human View/Edit Mouse |
What is the best source of type 2 collagen?
Type 2 is found in abundance in chicken collagen, so a supplement such as chicken bone broth or protein powder is a great source. In addition, chicken collagen also contains two popular remedies for joints and arthritis: chondroitin sulfate and glucosamine sulfate.
What does the gene Col2A1 stand for?
GeneCards Summary for COL2A1 Gene. COL2A1 (Collagen Type II Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL2A1 include Kniest Dysplasia and Spondyloepimetaphyseal Dysplasia, Strudwick Type. Among its related pathways are Integrin Pathway and Collagen chain trimerization.
What is COL2A1 collagen type II alpha 1 chain?
COL2A1 collagen type II alpha 1 chain [ (human)] Summary. This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye.
How many in-frame CGA codons are there in COL2A1?
COL2A1 has 10 in-frame CGA codons that can mutate to TGA stop codons by a methylation-deamination mechanism. Wilkin et al. (2000) analyzed these 10 codons using restriction endonuclease analysis or allele-specific amplification.
Is the COL2A1 rs1793958 gene variant associated with rhegmatogenous retinal detachment?
In summary, this study revealed that the COL2A1 rs1793958 variant is associated with reduced risk of sporadic rhegmatogenous retinal detachment (RRD), and patients carrying rs1793958 G allele have lower RRD severity. COL2A1 gene variants may contribute to the development of lattice degeneration of the retina.
