Typical Testing Data/Standard Curve (for reference only)
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Human Collagen alpha-1 (11) chain, COL11A1 ELISA Kit | COL11A1 elisa kit
Human Collagen alpha-1 (11) chain, COL11A1 ELISA Kit
Typical Testing Data/Standard Curve (for reference only)
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Typical Testing Data/Standard Curve (for reference only)
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Principle of the Assay: This kit is an Enzyme-Linked Immunosorbent Assay (ELISA). The plate has been pre-coated with Human COL11A1 antibody. COL11A1 present in the sample is added and binds to antibodies coated on the wells. And then biotinylated Human COL11A1 Antibody is added and binds to COL11A1 in the sample. Then Streptavidin-HRP is added and binds to the Biotinylated COL11A1 antibody. After incubation unbound Streptavidin-HRP is washed away during a washing step. Substrate solution is then added and color develops in proportion to the amount of Human COL11A1. The reaction is terminated by addition of acidic stop solution and absorbance is measured at 450 nm.
NCBI and Uniprot Product Information
NCBI Description
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
Uniprot Description
COL11A1: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. Defects in COL11A1 are the cause of Stickler syndrome type 2 (STL2); also known as Stickler syndrome vitreous type 2. STL2 is an autosomal dominant 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. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. Defects in COL11A1 are the cause of Marshall syndrome (MRSHS). It is an autosomal dominant disorder characterized by ocular abnormalities, deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Clinical features include short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal abnormalities, including defects in sweating and dental structures. Defects in COL11A1 are the cause of fibrochondrogenesis type 1 (FBCG1). A severe short-limbed skeletal dysplasia characterized by broad long-bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Belongs to the fibrillar collagen family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted, signal peptide; Secreted; Extracellular matrix
Chromosomal Location of Human Ortholog: 1p21
Cellular Component: collagen type XI; endoplasmic reticulum lumen; extracellular region
Molecular Function: protein binding, bridging; extracellular matrix binding; metal ion binding; extracellular matrix structural constituent
Biological Process: proteoglycan metabolic process; inner ear morphogenesis; extracellular matrix organization and biogenesis; ossification; collagen fibril organization; chondrocyte development; detection of mechanical stimulus involved in sensory perception of sound; embryonic skeletal morphogenesis; collagen catabolic process; extracellular matrix disassembly; sensory perception of sound; visual perception; ventricular cardiac muscle morphogenesis; cartilage condensation
Disease: Intervertebral Disc Disease; Stickler Syndrome, Type Ii; Fibrochondrogenesis 1; Marshall Syndrome
Research Articles on COL11A1
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Product Notes
The Human COL11A1 col11a1 (Catalog #AAA1606002) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA1606002 ELISA Kit recognizes Human COL11A1. It is sometimes possible for the material contained within the vial of "Collagen alpha-1 (11) chain, COL11A1, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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