Reactive species
Human;Mouse
Applications
WB;IHC;IF;ELISA
Antibody type
Polyclonal Antibody
Protein name
Collagen alpha-1(IX) chain
Immunogen
Synthesized peptide derived from COL9A1 . at AA range: 390-470
Specificity
COL9A1 Polyclonal Antibody detects endogenous levels of COL9A1 protein.
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source
Polyclonal, Rabbit,IgG
Dilution rate
WB: 1/500 - 1/2000. IHC: 1/100 - 1/300. ELISA: 1/5000.. IF 1:50-200
Purification process
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Other name
COL9A1; Collagen alpha-1(IX) chain
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],
Function
alternative products:Additional isoforms seem to exist,disease:Defects in COL9A1 are a cause of COL9A1-related multiple epiphyseal dysplasia (COL9A1-MED) [MIM:120210].,disease:Defects in COL9A1 are the cause of Stickler syndrome autosomal recessive COL9A1-related (COL9A1ARSTL) [MIM:120210]. COL9A1ARSTL is an autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juven
