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Rare cases of collagen VI related myopathies with phenotypes of intermediate severity have been reported. [28] Whole genome sequencing reveals that these intermediate phenotypes most likely result from a premature translation termination codon caused by a variation in the COL6A3 gene , as well as an amino acid substitution in the N2-terminal ...
Collagen is also abundant in corneas, blood vessels, the gut, intervertebral discs, and the dentin in teeth. [3] In muscle tissue, it serves as a major component of the endomysium. Collagen constitutes 1% to 2% of muscle tissue and 6% by weight of skeletal muscle. [4] The fibroblast is the most common cell creating collagen in animals.
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.
1285 12828 Ensembl ENSG00000169031 ENSMUSG00000079465 UniProt Q01955 Q9QZS0 RefSeq (mRNA) NM_000091 NM_031362 NM_031363 NM_031364 NM_031365 NM_031366 NM_007734 RefSeq (protein) NP_000082 NP_031760 Location (UCSC) Chr 2: 227.16 – 227.31 Mb Chr 1: 82.56 – 82.7 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen alpha-3(IV) chain is a protein that in humans is encoded by the ...
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 tissue in ...
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