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.
来源
Polyclonal, Rabbit,IgG
组成(Formulation)
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
稀释比例
WB: 1/500 - 1/2000. IHC: 1/100 - 1/300. ELISA: 1/10000.. IF 1:50-200
纯化工艺(Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
背景(Background)
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],
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 reg
蛋白名称
TERF1-interacting nuclear factor 2
其他名称
TINF2; TIN2; TERF1-interacting nuclear factor 2; TRF1-interacting nuclear protein 2
细胞定位
Nucleus . Chromosome, telomere . Associated with telomeres.; [Isoform 1]: Nucleus matrix .
组织表达
Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.