Rabbit anti-Human, Mouse TINF2 Polyclonal Antibody | anti-TINF2 antibody
TINF2 Polyclonal Antibody
NCBI and Uniprot Product Information
NCBI Description
This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
Uniprot Description
TINF2: Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix. Defects in TINF2 are a cause of dyskeratosis congenita autosomal dominant type 3 (DKCA3). A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Defects in TINF2 are a cause of retinopathy exudative with bone marrow failure (ERBMF); also known as Revesz syndrome. ERBMF is characterized by bilateral exudative retinopathy, bone marrow hypoplasia, nail dystrophy, fine hair, cerebellar hypoplasia, and growth retardation. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell cycle regulation
Chromosomal Location of Human Ortholog: 14q12
Cellular Component: nucleoplasm; chromosome, telomeric region; nuclear telomere cap complex; nuclear matrix; nucleus
Molecular Function: protein binding; DNA binding; telomeric DNA binding
Biological Process: telomere assembly; positive regulation of telomere maintenance; telomere maintenance; negative regulation of telomere maintenance via telomerase; negative regulation of epithelial cell proliferation
Disease: Dyskeratosis Congenita, Autosomal Dominant, 3; Dyskeratosis Congenita, Autosomal Dominant, 1; Revesz Syndrome
Research Articles on TINF2
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Product Notes
The TINF2 tinf2 (Catalog #AAA9433862) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The TINF2 Polyclonal Antibody reacts with Human, Mouse and may cross-react with other species as described in the data sheet. AAA Biotech's TINF2 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). WB: 1:500-1:2000. Researchers should empirically determine the suitability of the TINF2 tinf2 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "TINF2, Polyclonal Antibody" 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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