COL11A1 cdna clone
COL11A1 cDNA Clone
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; Extracellular matrix; Secreted
Chromosomal Location of Human Ortholog: 1p21
Cellular Component: collagen type XI; endoplasmic reticulum lumen; extracellular region
Biological Process: collagen catabolic process; detection of mechanical stimulus involved in sensory perception of sound; sensory perception of sound; visual perception
Disease: Fibrochondrogenesis 1; Intervertebral Disc Disease; Marshall Syndrome; Stickler Syndrome, Type Ii
Research Articles on COL11A1
Similar Products
Product Notes
The COL11A1 col11a1 (Catalog #AAA1273415) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: ATGGAGCCGT GGTCCTCTAG GTGGAAAACG AAACGGTGGC TCTGGGATTT CACCGTAACA ACCCTCGCAT TGACCTTCCT CTTCCAAGCT AGAGAGGTCA GAGGAGCTGC TCCAGTTGAT GTACTAAAAG CACTAGATTT TCACAATTCT CCAGAGGGAA TATCAAAAAC AACGGGATTT TGCACAAACA GAAAGAATTC TAAAGGCTCA GATACTGCTT ACAGAGTTTC AAAGCAAGCA CAACTCAGTG CCCCAACAAA ACAGTTATTT CCAGGTGGAA CTTTCCCAGA AGACTTTTCA ATACTATTTA CAGTAAAACC AAAAAAAGGA ATTCAGTCTT TCCTTTTATC TATATATAAT GAGCATGGTA TTCAGCAAAT TGGTGTTGAG GTTGGGAGAT CACCTGTTTT TCTGTTTGAA GACCACACTG GAAAACCTGC CCCAGAAGAC TATCCCCTCT TCAGAACTGT TAACATCGCT GACGGGAAGT GGCATCGGGT AGCAATCAGC GTGGAGAAGA AAACTGTGAC AATGATTGTT GATTGTAAGA AGAAAACCAC GAAACCACTT GATAGAAGTG AGAGAGCAAT TGTTGATACC AATGGAATCA CGGTTTTTGG AACAAGGATT TTGGATGAAG AAGTTTTTGA GGGGGACATT CAGCAGTTTT TGATCACAGG TGATCCCAAG GCAGCATATG ACTACTGTGA GCATTATAGT CCAGACTGTG ACTCTTCAGC ACCCAAGGCT GCTCAAGCTC AGGAACCTCA GATAGATGAG TATGCACCAG AGGATATAAT CGAATATGAC TATGAGTATG GGGAAGCAGA GTATAAAGAG GCTGAAAGTG TAACAGAGGG ACCCACTGTA ACTGAGGAGA CAATAGCACA GACGGAGATA AATGGCCATG GTGCATATGG AGAGAAAGGA CAGAAAGGAG AACCAGCAGT GGTTGAGCCT GGTATGCTTG TCGAAGGACC ACCAGGACCA GCAGGACCTG CAGGTATTAT GGGTCCTCCA GGTCTACAAG GCCCCACTGG ACCCCCTGGT GACCCTGGCG ATAGGGGCCC CCCAGGACGT CCTGGCTTAC CAGGGGCTGA TGGTCTACCT GGTCCTCCTG GTACTATGTT GATGTTACCG TTCCGTTATG GTGGTGATGG TTCCAAAGGA CCAACCATCT CTGCTCAGGA AGCTCAGGCT CAAGCTATTC TTCAGCAGGC TCGGATTGCT CTGAGAGGCC CACCTGGCCC AATGGGTCTA ACTGGAAGAC CAGGTCCTGT GGGGGGGCCT GGTTCATCTG GGGCCAAAGG TGAGAGTGGT GATCCAGGTC CTCAGGGCCC TCGAGGCGTC CAGGGTCCCC CTGGTCCAAC GGGAAAACCT GGAAAAAGGG GTCGTCCAGG TGCAGATGGA GGAAGAGGAA TGCCAGGAGA ACCTGGGGCA AAGGGAGATC GAGGGTTTGA TGGACTTCCG GGTCTGCCAG GTGACAAAGG TCACAGGGGT GAACGAGGTC CTCAAGGTCC TCCAGGTCCT CCTGGTGATG ATGGAATGAG GGGAGAAGAT GGAGAAATTG GACCAAGAGG TCTTCCAGGT GAAGCTGGCC CACGAGGTTT GCTGGGTCCA AGGGGAACTC CAGGAGCTCC AGGGCAGCCT GGTATGGCAG GTGTAGATGG CCCCCCAGGA CCAAAAGGGA ACATGGGTCC CCAAGGGGAG CCTGGGCCTC CAGGTCAACA AGGGAATCCA GGACCTCAGG GTCTTCCTGG TCCACAAGGT CCAATTGGTC CTCCTGGTGA AAAAGGACCA CAAGGAAAAC CAGGACTTGC TGGACTTCCT GGTGCTGATG GGCCTCCTGG TCATCCTGGG AAAGAAGGCC AGTCTGGAGA AAAGGGGGCT CTGGGTCCCC CTGGTCCACA AGGTCCTATT GGATACCCGG GCCCCCGGGG AGTAAAGGGA GCAGATGGTG TCAGAGGTCT CAAGGGATCT AAAGGTGAAA AGGGTGAAGA TGGTTTTCCA GGATTCAAAG GTGACATGGG TCTAAAAGGT GACAGAGGAG AAGTTGGTCA AATTGGCCCA AGAGGGGAAG ATGGCCCTGA AGGACCCAAA GGTCGAGCAG GCCCAACTGG AGACCCAGGT CCTTCAGGTC AAGCAGGAGA AAAGGGAAAA CTTGGAGTTC CAGGATTACC AGGATATCCA GGAAGACAAG GTCCAAAGGG TTCCACTGGA TTCCCTGGGT TTCCAGGTGC CAATGGAGAG AAAGGTGCAC GGGGAGTAGC TGGCAAACCA GGCCCTCGGG GTCAGCGTGG TCCAACGGGT CCTCGAGGTT CAAGAGGTGC AAGAGGTCCC ACTGGGAAAC CTGGGCCAAA GGGCACTTCA GGTGGCGATG GCCCTCCTGG CCCTCCAGGT GAAAGAGGTC CTCAAGGACC TCAGGGTCCA GTTGGATTCC CTGGACCAAA AGGCCCTCCT GGACCACCTG GGAAGGATGG GCTGCCAGGA CACCCTGGGC AACGTGGGGA GACTGGATTT CAAGGCAAGA CCGGCCCTCC TGGGCCAGGG GGAGTGGTTG GACCACAGGG ACCAACCGGT GAGACTGGTC CAATAGGGGA ACGTGGGCAT CCTGGCCCTC CTGGCCCTCC TGGTGAGCAA GGTCTTCCTG GTGCTGCAGG AAAAGAAGGT GCAAAGGGTG ATCCAGGTCC TCAAGGTATC TCAGGGAAAG ATGGACCAGC AGGATTACGT GGTTTCCCAG GGGAAAGAGG TCTTCCTGGA GCTCAGGGTG CACCTGGACT GAAAGGAGGG GAAGGTCCCC AGGGCCCACC AGGTCCAGTT GGCTCACCAG GAGAACGTGG GTCAGCAGGT ACAGCTGGCC CAATTGGTTT ACCAGGGCGC CCGGGACCTC AGGGTCCTCC TGGTCCAGCT GGAGAGAAAG GTGCTCCTGG AGAAAAAGGT CCCCAAGGGC CTGCAGGGAG AGATGGAGTT CAAGGTCCTG TTGGTCTCCC AGGGCCAGCT GGTCCTGCCG GCTCCCCTGG GGAAGACGGA GACAAGGGTG AAATTGGTGA GCCGGGACAA AAAGGCAGCA AGGGTGACAA GGGAGAAAAT GGCCCTCCCG GTCCCCCAGG TCTTCAAGGA CCAGTTGGTG CCCCTGGAAT TGCTGGAGGT GATGGTGAAC CAGGTCCTAG AGGACAGCAG GGGATGTTTG GGCAAAAAGG TGATGAGGGT GCCAGAGGCT TCCCTGGACC TCCTGGTCCA ATAGGTCTTC AGGGTCTGCC AGGCCCACCT GGTGAAAAAG GTGAAAATGG GGATGTTGGT CCCATGGGGC CACCTGGTCC TCCAGGCCCA AGAGGCCCTC AAGGTCCCAA TGGAGCTGAT GGACCACAAG GACCCCCAGG GTCTGTTGGT TCAGTTGGTG GTGTTGGAGA AAAGGGTGAA CCTGGAGAAG CAGGGAACCC AGGGCCTCCT GGGGAAGCAG GTGTAGGCGG TCCCAAAGGA GAAAGAGGAG AGAAAGGGGA AGCTGGTCCA CCTGGAGCTG CTGGACCTCC AGGTGCCAAG GGGCCACCAG GTGATGATGG CCCTAAGGGT AACCCGGGTC CTGTTGGTTT TCCTGGAGAT CCTGGTCCTC CTGGGGAACT TGGCCCTGCA GGTCAAGATG GTGTTGGTGG TGACAAGGGT GAAGATGGAG ATCCTGGTCA ACCGGGTCCT CCTGGCCCAT CTGGTGAGGC TGGCCCACCA GGTCCTCCTG GAAAACGAGG TCCTCCTGGA GCTGCAGGTG CAGAGGGAAG ACAAGGTGAA AAAGGTGCTA AGGGGGAAGC AGGTGCAGAA GGTCCTCCTG GAAAAACCGG CCCAGTCGGT CCTCAGGGAC CTGCAGGAAA GCCTGGTCCA GAAGGTCTTC GGGGCATCCC TGGTCCTGTG GGAGAACAAG GTCTCCCTGG AGCTGCAGGC CAAGATGGAC CACCTGGTCC TATGGGACCT CCTGGCTTAC CTGGTCTCAA AGGTGACCCT GGCTCCAAGG GTGAAAAGGG ACATCCTGGT TTAATTGGCC TGATTGGTCC TCCAGGAGAA CAAGGGGAAA AAGGTGACCG AGGGCTCCCT GGAACTCAAG GATCTCCAGG AGCAAAAGGG GATGGGGGAA TTCCTGGTCC TGCTGGTCCC TTAGGTCCAC CTGGTCCTCC AGGCTTACCA GGTCCTCAAG GCCCAAAGGG TAACAAAGGC TCTACTGGAC CCGCTGGCCA GAAAGGTGAC AGTGGTCTTC CAGGGCCTCC TGGGCCTCCA GGTCCACCTG GTGAAGTCAT TCAGCCTTTA CCAATCTTGT CCTCCAAAAA AACGAGAAGA CATACTGAAG GCATGCAAGC AGATGCAGAT GATAATATTC TTGATTACTC GGATGGAATG GAAGAAATAT TTGGTTCCCT CAATTCCCTG AAACAAGACA TCGAGCATAT GAAATTTCCA ATGGGTACTC AGACCAATCC AGCCCGAACT TGTAAAGACC TGCAACTCAG CCATCCTGAC TTCCCAGATG GTGAATATTG GATTGATCCT AACCAAGGTT GCTCAGGAGA TTCCTTCAAA GTTTACTGTA ATTTCACATC TGGTGGTGAG ACTTGCATTT ATCCAGACAA AAAATCTGAG GGAGTAAGAA TTTCATCATG GCCAAAGGAG AAACCAGGAA GTTGGTTTAG TGAATTTAAG AGGGGAAAAC TGCTTTCATA CTTAGATGTT GAAGGAAATT CCATCAATAT GGTGCAAATG ACATTCCTGA AACTTCTGAC TGCCTCTGCT CGGCAAAATT TCACCTACCA CTGTCATCAG TCAGCAGCCT GGTATGATGT GTCATCAGGA AGTTATGACA AAGCACTTCG CTTCCTGGGA TCAAATGATG AGGAGATGTC CTATGACAAT AATCCTTTTA TCAAAACACT GTATGATGGT TGTGCGTCCA GAAAAGGCTA TGAAAAGACT GTCATTGAAA TCAATACACC AAAAATTGAT CAAGTACCTA TTGTTGATGT CATGATCAAT GACTTTGGTG ATCAGAATCA GAAGTTCGGA TTTGAAGTTG GTCCTGTTTG TTTTCTTGGC TAA. It is sometimes possible for the material contained within the vial of "COL11A1, cDNA Clone" 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
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
