Information about Collagen Iii

collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
Identifiers
SymbolCOL3A1
Alt. SymbolsEDS4A
Entrez1281
HUGO2201
OMIM120180
RefSeqNM_000090
UniProtP02461
Other data
LocusChr. 2 q31-q32.3
Type-III collagen is a fibrous scleroprotein in bone and cartilage and tendon and other connective tissue; yields gelatin on boiling.

Scleroprotein is a simple protein found in horny and cartilaginous tissues and in the lens of the eye.

See also

External links

The Entrez Global Query Cross-Database Search System is a powerful federated search engine, or web portal that allows users to search many discrete health sciences databases at the National Center for Biotechnology Information (NCBI) website.
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Hugo is a male given name, a latinized form of the name Hugh, a German/Teutonic name meaning "Bright in Mind and Spirit".

Hugo is one of the most popular names in Europe ranking as high as #2 in France, #6 in Spain, and #7 in Belgium in 2006.
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The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health. The NCBI is located in Bethesda, Maryland and was founded in 1988.
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Swiss-Prot is a manually curated biological database of protein sequences. Swiss-Prot was created in 1986 by Amos Bairoch during his PhD and developed by the Swiss Institute of Bioinformatics and the European Bioinformatics Institute.
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locus (plural loci) is a fixed position on a chromosome, such as the position of a gene or a biomarker (genetic marker). A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map.
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Fibrous proteins, also called scleroproteins, are long filamentous protein molecules that form one of the two main classes of tertiary structure protein (the other being globular proteins). Fibrous proteins are only found in animals.
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Bones are rigid organs that form part of the endoskeleton of vertebrates. They function to move, support, and protect the various organs of the body, produce red and white blood cells and store minerals.
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Cartilage is a type of dense connective tissue. It is composed of collagen fibers and/or elastin fibers, and can supply smooth surfaces for the movement of articulating bones.
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A tendon (or sinew) is a tough band of fibrous connective tissue that connects muscle to bone and is built to withstand tension. Tendons are similar to ligaments except that ligaments join one bone to another.
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Connective tissue is one of the four types of tissue in traditional classifications (the others being epithelial, muscle, and nervous tissue.) It is largely a category of exclusion rather than one with a precise definition, but all or most tissues in this category are similarly:
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Gelatin (also gelatine , from French gélatine) is a translucent, colourless, brittle, nearly tasteless solid substance, extracted from the collagen inside animals' connective tissue.
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Boiling, a type of phase transition, is the rapid vaporization of a liquid, which typically occurs when a liquid is heated to its boiling point, the temperature at which the vapor pressure of the liquid is equal to the pressure exerted on the liquid by the surrounding environmental
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The lens is a transparent, biconvex (lentil-shaped) structure in the eye that, along with the cornea, helps to refract light to be focused on the retina. Its function is thus similar to a human-made optical lens.
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Collagen is the main protein of connective tissue in animals and the most abundant protein in mammals, [1] making up about 25% of the total protein content.

Uses


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Ehlers-Danlos syndrome
Classification & external resources

ICD-10 Q 79.6
ICD-9 756.83

MedlinePlus 001468
eMedicine derm/696   ped/654
MeSH D004535

Ehlers-Danlos syndrome
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Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/PubMed
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Proteins are large organic compounds made of amino acids arranged in a linear chain and joined together by peptide bonds between the carboxyl and amino groups of adjacent amino acid residues.
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Fibrous proteins, also called scleroproteins, are long filamentous protein molecules that form one of the two main classes of tertiary structure protein (the other being globular proteins). Fibrous proteins are only found in animals.
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Collagen is the main protein of connective tissue in animals and the most abundant protein in mammals, [1] making up about 25% of the total protein content.

Uses


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Identifiers
Symbol COL1A2
Alt. Symbols OI4

Entrez 1278
HUGO 2198
OMIM 120160

RefSeq NM_000089
UniProt P08123
Other data

Locus Chr. 7 q21.3-22.1 Type-I collagen is the most abundant collagen of the human body.
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COL1A1 (collagen, type I, alpha 1) is a human gene that is one of several genes that provide instructions for making components of collagen. Collagen is a protein that strengthens and supports many tissues in the body, including cartilage, bone, tendon, skin and the white
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Type-II collagen is the basis for articular cartilage and hyaline cartilage.

It makes up 50% of all protein in cartilage and 85-90% of collagen of articular cartilage.
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COL2A1 (collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)) is a human gene that provides instructions for the production of the pro-alpha1(II) chain of type II collagen.
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Type-IV collagen is a type of collagen found primarily in the basal lamina. The C-terminus domain is not removed in post-translational processing, and the fibers link head-to-head, rather than in parallel.
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Type-V collagen is a form of fibrillar[1] collagen associated with classical Ehlers-Danlos syndrome.

Genes

  • COL5A1 , COL5A2 , COL5A3

References

1.

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COL11A2 (collagen, type XI, alpha 2) is a human gene that is one of several genes that provide instructions for the production of type XI collagen. The COL11A2 gene produces one component of this type of collagen, called the pro-alpha2(XI) chain.
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Collagen XVII, previously called BP180, is a transmembrane protein which plays a critical role in maintaining the linkage between the intracellular and the extracellular structural elements involved in epidermal adhesion [1].
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Type XVIII collagen is a type of collagen which can be cleaved to form endostatin.

External links

  • MeSH Collagen+Type+XVIII


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Keratins are a family of fibrous structural proteins; tough and insoluble, they form the hard but nonmineralized structures found in reptiles, birds, amphibians and mammals. They are rivaled as biological materials in toughness only by chitin.
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Cytokeratins are intermediate filament keratins found in the intracytoplasmic cytoskeleton of epithelial tissue. There are two types of cytokeratins: the low weight, acidic type I cytokeratins and the high weight, basic or neutral type II cytokeratins.
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