Collagen I is a Type I collagen with a triple helix structure comprised of two alpha-1 chains and one alpha-2 chain. Collagen I is a member of group I collagen (fibril-forming collagen) found in most connective tissues, and is abundant in bone, cornea, dermis and tendon. Mutations in the COL1A2 gene encoding the alpha-2 chain are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in the COL1A2 gene which codes for the alpha-2 chain, however, tend to be less severe than mutations in the COL1A1 gene, reflecting the different role of alpha-2 chains in matrix integrity. Reciprocal translocations between chromosomes 17 and 22, where Collagen Type 1 genes 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.
Proben:
FFPE tissue
Target-Kategorie:
Human Collagen I
IHC0647H
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