IL7R cdna clone
IL7R cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]
Uniprot Description
IL7R: Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP). Defects in IL7R are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell- positive/NK-cell-positive (T(-)B(+)NK(+) SCID). A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Genetic variations in IL7R are a cause of susceptibility to multiple sclerosis type 3 (MS3). A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheat, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. A polymorphism at position 244 strongly influences susceptibility to multiple sclerosis. Overtransmission of the major 'C' allele coding for Thr-244 is detected in offspring affected with multiple sclerosis. In vitro analysis of transcripts from minigenes containing either 'C' allele (Thr-244) or 'T' allele (Ile-244) shows that the 'C' allele results in an approximately two-fold increase in the skipping of exon 6, leading to increased production of a soluble form of IL7R. Thus, the multiple sclerosis associated 'C' risk allele of IL7R would probably decrease membrane-bound expression of IL7R. As this risk allele is common in the general population, some additional triggers are probably required for the development and progression of MS. Belongs to the type I cytokine receptor family. Type 4 subfamily. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Receptor, cytokine
Chromosomal Location of Human Ortholog: 5p13
Cellular Component: plasma membrane
Molecular Function: antigen binding; interleukin-7 receptor activity; protein binding
Biological Process: cell surface receptor linked signal transduction; immune response; regulation of DNA recombination; signal transduction
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative, B Cell-positive, Nk Cell-positive
Research Articles on IL7R
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Product Notes
The IL7R il7r (Catalog #AAA1270416) 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: atgacaattc taggtacaac ttttggcatg gttttttctt tacttcaagt cgtttctgga gaaagtggct atgctcaaaa tggagacttg gaagatgcag aactggatga ctactcattc tcatgctata gccagttgga agtgaatgga tcgcagcact cactgacctg tgcttttgag gacccagatg tcaacatcac caatctggaa tttgaaatat gtggggccct cgtggaggta aagtgcctga atttcaggaa actacaagag atatatttca tcgagacaaa gaaattctta ctgattggaa agagcaatat atgtgtgaag gttggagaaa agagtctaac ctgcaaaaaa atagacctaa ccactatagt taaacctgag gctccttttg acctgagtgt cgtctatcgg gaaggagcca atgactttgt ggtgacattt aatacatcac acttgcaaaa gaagtatgta aaagttttaa tgcacgatgt agcttaccgc caggaaaagg atgaaaacaa atggacgcat gtgaatttat ccagcacaaa gctgacactc ctgcagagaa agctccaacc ggcagcaatg tatgagatta aagttcgatc catccctgat cactatttta aaggcttctg gagtgaatgg agtccaagtt attacttcag aactccagag atcaataata gctcagggga gatggatcct atcttactaa ccatcagcat tttgagtttt ttctctgtcg ctctgttggt catcttggcc tgtgtgttat ggaaaaaaag gattaagcct atcgtatggc ccagtctccc cgatcataag aagactctgg aacatctttg taagaaacca agaaaaaatt taaatgtgag tttcaatcct gaaagtttcc tggactgcca gattcatagg gtggatgaca ttcaagctag agatgaagtg gaaggttttc tgcaagatac gtttcctcag caactagaag aatctgagaa gcagaggctt ggaggggatg tgcagagccc caactgccca tctgaggatg tagtcatcac tccagaaagc tttggaagag attcatccct cacatgcctg gctgggaatg tcagtgcatg tgacgcccct attctctcct cttccaggtc cctagactgc agggagagtg gcaagaatgg gcctcatgtg taccaggacc tcctgcttag ccttgggact acaaacagca cgctgccccc tccattttct ctccaatctg gaatcctgac attgaaccca gttgctcagg gtcagcccat tcttacttcc ctgggatcaa atcaagaaga agcatatgtc accatgtcca gcttctacca aaaccagtga. It is sometimes possible for the material contained within the vial of "IL7R, 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
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