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.
What is liver COL4A1?
COL4A1 is dramatically upregulated collagen gene in HCC by screening the expression patterns of all 44 collagen genes in liver cancer from the TCGA-LIHC database. COL4A1 promotes the growth and metastasis of HCC cells by activating FAK-Src signaling.
What is Gould 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 [12].
Where is collagen type 4 found?
extracellular basement membranes
Collagen IV is the primary collagen found in the extracellular basement membranes separating a variety of epithelial and endothelial cells. It is a major component of the dermal–epidermal junction, where it is mostly found in the lamina densa.
Is osteogenesis imperfecta autosomal dominant?
Over 80 percent of the mutations that cause osteogenesis imperfecta are inherited in an autosomal dominant pattern. That means that an affected individual has only one copy of the mutated gene.
What is collagen type 5 GOOD?
Type V collagen is a fibrillar collagen. It is essential for fibrillation of types I and III collagen, and consequently for optimal fibrillary formation and tissue quality. Type V collagen contributes to the bone matrix, corneal stroma, and the interstitial matrix of muscles, liver, lungs, and placenta.
Is OI type 2 dominant or recessive?
Variants in the COL1A1 and COL1A2 genes (17q21. 31-q22 and 7q22. 1 respectively) cause OI type IIA and IIB, and transmission is autosomal dominant.
Is Type 3 OI dominant or recessive?
OI type III is caused by changes in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner.
Which form of collagen is the best?
Collagen peptides are usually considered the best form of collagen for ingestion. Hydrolyzed collagen should be taken if a person wants to take a collagen supplement. Hydrolyzed collagen means the collagen has been broken down into small peptides, which are easy for the body to digest.
Which types of collagen are best?
Type I or type 1 collagen is the strongest type of collagen. If you’re looking for a collagen for supporting skin health, type 1 is a top choice since it’s literally a building block of the skin.
What is OI type 3 severe?
Type III. Most severe type in babies who don’t die as newborns. At birth, a baby may have slightly shorter arms and legs than normal and arm, leg, and rib fractures. A baby may also have a larger than normal head, a triangle-shaped face, a deformed chest and spine, and breathing and swallowing problems.
Is osteogenesis imperfecta Type 2 fatal?
OI type II is the most severe form. It is a lethal form with collagen abnormalities resulting in dwarfism, bone fragility and deformity with in utero or perinatal death [2]. There are diagnosis difficulties between OI and other skeletal dysplasia.
What is Ori Type 3?
Overview. Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones.