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.
What does the COL2A1 gene do?
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.
What is the COL4A1 gene?
The COL4A1 gene provides instructions for making one component of type IV collagen, which is a flexible protein important in the structure of many tissues throughout the body. Specifically, this gene makes the alpha1(IV) chain of type IV collagen.
How do you get type 2 collagen?
Most collagen type II found in supplements comes from chicken. Some collagen type II in supplements comes from cows. Collagen type II is used for osteoarthritis.
What is the cause of Achondrogenesis?
Achondrogenesis type IA is caused by mutations in the TRIP11 gene. Achondrogenesis type IB is caused by mutations in the SLC26A2 gene. These two genes are required for the efficient cellular transport of certain cartilage proteins needed to build skeleton and other tissues.
What is Gould’s syndrome?
Gould Syndrome is often characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy), and kidney abnormalities (renal pathology); however, many other aspects of the syndrome including abnormalities affecting the structure of …
What is collagen type 4 good?
Type IV collagen is the main component of the BM and provides a scaffold for assembly and mechanical stability, but is also important in cell adhesion, migration, survival, proliferation, and differentiation .
Is type 2 collagen good for skin?
NPD of collagen is increasingly popular as studies have supported its role in promoting active joints, youthful-looking skin and healthy connective tissues. Type II collagen has garnered attention for its ability to rebuild of cartilage by using the body’s natural repair mechanism in the joints.
What are symptoms of achondrogenesis?
Achondrogenesis type IA (Houston-Harris type) is characterized by varying facial abnormalities (flat face, protruding eyes and protruding tongue or only minor facial anomalies), short trunk and limbs, short beaded ribs and thin skull bones (deficient ossification of the skull).
Is achondrogenesis inherited?
Achondrogenesis type 1A and type 1B are believed to be inherited in an autosomal recessive pattern. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell .