产品名称
TIN2 Rabbit Polyclonal Antibody
别名
TINF2; TIN2; TERF1-interacting nuclear factor 2; TRF1-interacting nuclear protein 2
蛋白名称
TERF1-interacting nuclear factor 2
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26277
Human Swissprot No.
Q9BSI4
Human Swissprot Link
http://www.uniprot.org/uniprotkb/Q9BSI4/entry
Mouse Swissprot No.
Q9QXG9
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q9QXG9
免疫原
The antiserum was produced against synthesized peptide derived from human TINF2. AA range:71-120
特异性
TIN2 Polyclonal Antibody detects endogenous levels of TIN2 protein.
稀释度
WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:10000.. IF 1:50-200
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
细胞定位
Nucleus . Chromosome, telomere . Associated with telomeres.; [Isoform 1]: Nucleus matrix .
功能
alternative products:Experimental confirmation may be lacking for some isoforms,disease:Defects in TINF2 are a cause of dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]; also known as dyskeratosis congenita Scoggins type. ADDKC is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.,disease:Defects in TINF2 are a cause of retinopathy exudative with bone marrow failure (ERBMF) [MIM:268130]; also known as Revesz syndrome. ERBMF is characterized by bilateral exudative retinopathy, bone marrow hypoplasia, nail dystrophy, fine hair, cerebellar hypoplasia, and growth retardation.,function: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.,subcellular location:Associated with telomeres.,subunit:Monomer. Found in a complex with POT1; TERF1 and TNKS1. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Binds to TERF1 and ACD.,tissue specificity:Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
