Human TERF1-Interacting Nuclear Factor 2 (TINF2) ELISA Kit | TINF2 elisa kit
Human TERF1-Interacting Nuclear Factor 2 (TINF2) ELISA Kit
* Allow all reagents to warm to room temperature for at least 30 minutes before opening.
* Pre-rinse the pipet tip with reagent, use fresh pipet tips for each sample, standard and reagent to avoid contamination.
* Unused wells must be kept desiccated at 4 degree C in the sealed bag provided.
* Mix Thoroughly is very important for the result. It is recommended using low frequency oscillator or slight hand shaking every 10 minutes.
* It is recommended that all samples and standards be assayed in duplicate or triplicate.
Background: TINF2 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.The TIN2 open reading frame encoded a protein of 354 amino acids. A wide variety of human tissues and cell types expressed a 2.4-kb TIN2 transcript on Northern blot analysis, and expression did not vary with growth state, immortalization, or transformation. TIN2 interacted with TRF1 in vitro and in cells, and colocalized with TRF1 in nuclei and metaphase chromosomes.
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 Human TINF2 tinf2 (Catalog #AAA9713989) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9713989 ELISA Kit recognizes Human TINF2. It is sometimes possible for the material contained within the vial of "TERF1-Interacting Nuclear Factor 2 (TINF2), 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
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