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COL9A1 Polyclonal Antibody, 100μg, (ATB-T1038)

$199.00
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Background: This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]Product datasheet: Overview Product Description COL9A1 Polyclonal Antibody, 100μg, (ATB-T1038) Image Species Reactivities Human,Mouse Immunogen Synthesized peptide derived from the Internal region of human COL9A1. Properties Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Storage Instructions-20°C/1 year References: [Expression of COL9A1 gene and its polymorphism in children with idiopathic congenital talipes equinovarus]. Liu LY, et al. Zhongguo Dang Dai Er Ke Za Zhi, 2011 Jun. PMID 21672422 Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. Nikopoulos K, et al. Invest Ophthalmol Vis Sci, 2011 Jul 1. PMID 21421862 The NC2 domain of collagen IX provides chain selection and heterotrimerization. Boudko SP, et al. J Biol Chem, 2010 Jul 30. PMID 20507993 Free PMC Article Crystal structure of the N-terminal NC4 domain of collagen IX, a zinc binding member of the laminin-neurexin-sex hormone binding globulin (LNS) domain family. Leppänen VM, et al. J Biol Chem, 2007 Aug 10. PMID 17553797 [Analysis of association between COL9A1 gene and idiopathic congenital talipes equinovarus]. Liu LY, et al. Yi Chuan, 2007 Apr. PMID 17548304

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COL9A1 Polyclonal Antibody, 100μg, (ATB-T1038)
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