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Type I collagen is the most abundant collagen of the human body, consisting of around 90% of the body's total collagen in vertebrates. Due to this, it is also the most abundant protein type found in all vertebrates. Type I forms large, eosinophilic fibers known as collagen fibers, which make up most of the rope-like dense connective ...
Type II collagen is the basis for hyaline cartilage, including the articular cartilages at joint surfaces. It is formed by homotrimers of collagen, type II, alpha 1 chains. It makes up 50% of all protein in cartilage and 85–90% of collagen of articular cartilage. Type II collagen is organised into fibrils.
- Protein Structure and Function
- Tissue Distribution
- Gene
- Clinical Significance
- Animal Models
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Type III collagen is synthesized by cells as a pre-procollagen. The signal peptide is cleaved off producing a procollagen molecule. Three identical type III procollagen chains come together at the carboxy-terminal ends, and the structure is stabilized by the formation of disulphide bonds. Each individual chain folds into left-handed helix and the t...
Type III collagen is found as a major structural component in hollow organs such as large blood vessels, uterus and bowel. It is also found in many other tissues together with type I collagen.
The COL3A1 gene is located on the long (q) arm of chromosome 2 at 2q32.2, between positions 188974372 and 189012745. The gene has 51 exons and is approximately 40 kbp long. The COL3A1 gene is in tail-to-tail orientation with a gene for another fibrillar collagen, namely COL5A2. Two transcripts are generated from the gene using different polyadenyla...
Mutations in the COL3A1 gene cause Ehlers-Danlos syndrome, vascular type(vEDS; also known as the EDS type IV; OMIM 130050). It is the most severe form of EDS, since patients often die suddenly due to rupture of large arteries or other hollow organs. A few patients with arterial aneurysms without clear signs of EDS have also been found to have COL3A...
Four different mouse models with COL3A1 defects have been reported. Inactivation of the murine COL3A1 gene using homologous recombination technique led to a shorter life span in homozygous mutant mice. The mice died prematurely from a rupture of major arteries mimicking the human vEDS phenotype. These mice also had a severe malformation of the brai...
Collagen+type+III at the U.S. National Library of Medicine Medical Subject Headings(MeSH)"COL3A1". Ehlers Danlos Syndrome Variant Database. Archived from the original on 2021-01-26. Retrieved 2018-12-05.Byers PH, Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A (1993). "Vascular Ehlers-Danlos Syndrome". Ehlers-Danlos Syndrome Type IV. NCBI/NIH/UW. PMID 20301667....Protein kinase B (PKB), also known as Akt, is the collective name of a set of three serine/threonine-specific protein kinases that play key roles in multiple cellular processes such as glucose metabolism, apoptosis, cell proliferation, transcription, and cell migration.
Amino acid. Structure of a typical L -alpha-amino acid in the "neutral" form. Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. [1] Although over 500 amino acids exist in nature, by far the most important are the 22 α-amino acids incorporated into proteins. [2]
Escherichia coli (/ ˌɛʃəˈrɪkiə ˈkoʊlaɪ / ESH-ə-RIK-ee-ə KOH-lye) [1][2] is a gram-negative, facultative anaerobic, rod-shaped, coliform bacterium of the genus Escherichia that is commonly found in the lower intestine of warm-blooded organisms. [3][4] Most E. coli strains are harmless, but some serotypes such as EPEC, and ETEC are pathogenic and ...
Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders typically inherited. [2] . The most common type is known as sickle cell anemia. [2] . It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2] .
