Product Information
Molecular Weight91855Da
Protein NameCollagen alpha-1(IX) chain
Human Gene Id1297
Human Swiss Prot NoP20849
Mouse Gene Id12839
Mouse Swiss Prot NoQ05722
SpecificityCOL9A1 Polyclonal Antibody detects endogenous levels of COL9A1 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameCOL9A1; Collagen alpha-1(IX) chain
Observed Band(KD)120
Functionalternative 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
Subcellular Locationextracellular region,proteinaceous extracellular matrix,collagen type IX trimer,endoplasmic reticulum lumen,
ExpressionBrain,Mammary gland,
Backgroundcollagen type IX alpha 1 chain(COL9A1) Homo sapiens 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],