The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Application notesWB: 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.
FunctionComponent 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.
Tissue specificityDetected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Involvement in diseaseDefects 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.
DomainThe TBM domain mediates interaction with TERF1.
Cellular localizationNucleus. Chromosome > telomere. Associated with telomeres.