Reconstitution information: Add 0.2 mL of distilled water will yield a concentration of 500 µg/mL.
Type I collagen, the fibrillar collagen found in most connective tissues, and the only component of the collagen found in cartilage. Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene.
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Protein Aliases: alpha1 (III) collagen; COL3A1; Collagen alpha-1(III) chain; collagen, fetal; collagen, type III, alpha 1; Ehlers-Danlos syndrome type IV, autosomal dominant; minisatellite 10w detected by probe MMS10; procollagen, type III, alpha 1
Gene Aliases: AW550625; Col3a-1; COL3A1; EDS4A; mKIAA4231; MMS10-W; Ms10w