AA960264, AI325291, Col1a-1, Col1a-2, COL1A1, COL1A2, Cola-1, Cola-2, Cola1, Cola2, COLIA1, EDSC, I79_010913, Mov-13, Mov13, OI1, OI2, OI3, OI4, oim, Alpha 1 type I collagen, Collagen alpha 1(I) chain, collagen type I, alpha 1a
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:
Rat Collagen I
IHC0648R
* Mehrwertsteuer und Versandkosten nicht enthalten. Irrtümer und Preisänderungen vorbehalten
