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COL1A2 Polyclonal Antibody, 100μg, (ATB-T1019)

$199.00
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Background: This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene 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 this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]Product datasheet: Overview Product Description COL1A2 Polyclonal Antibody, 100μg, (ATB-T1019) Image Species Reactivities Human Immunogen Synthesized peptide derived from the Internal region of human COL1A2. Properties Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Storage Instructions-20°C/1 year References: Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders. Reuter MS, et al. Eur J Med Genet, 2013 Dec. PMID 24140640 Analysis of the association between an insertion/deletion polymorphism within the 3' untranslated region of COL1A2 and chronic venous insufficiency. Jin Y, et al. Ann Vasc Surg, 2013 Oct. PMID 23849651 Associations of collagen type I α2 polymorphisms with the presence of intracranial aneurysms in patients from Germany. Gläsker S, et al. J Stroke Cerebrovasc Dis, 2014 Feb. PMID 23800505 Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome. Chen CP, et al. Taiwan J Obstet Gynecol, 2013 Mar. PMID 23548243 The rs42524 COL1A2 polymorphism is associated with primary intracerebral hemorrhage in a Chinese population. Liu W, et al. J Clin Neurosci, 2012 Dec. PMID 23036172

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COL1A2 Polyclonal Antibody, 100μg, (ATB-T1019)
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