The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
应用说明WB: Use at a concentration of 1 - 2 ug/ml. Detects a band of approximately 40 kDa.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
功能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.
组织特异性Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
疾病相关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. 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.
结构域The TBM domain mediates interaction with TERF1.
细胞定位Nucleus. Chromosome > telomere. Associated with telomeres.