Rabbit anti-Human TIN2/TINF2 Monoclonal Antibody

Uniprot Id

Q9BSI4

Target Species

Human

Target Name

TINF2

Target Full Name

TERF1-interacting nuclear factor 2

Target 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. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix.

Target Involvement

Dyskeratosis congenita, autosomal dominant, 3 (DKCA3); Dyskeratosis congenita, autosomal dominant, 5 (DKCA5)

Target Subcellular Location

Nucleus. Chromosome, telomere. Note=Associated with telomeres.; [Isoform 1]: Nucleus matrix.

Target Tissue Specificity

Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Target Synonyms

AW552114; D14Wsu146e; DKCA3; MGC94711; TERF 1 (TRF 1) interacting nuclear factor 2; TERF 1 interacting nuclear factor 2; TERF1 (TRF1) interacting nuclear factor 2; TERF1 interacting nuclear factor 2; TERF1-interacting nuclear factor 2; Tin 2; TIN2; TINF 2; Tinf2; TINF2_HUMAN; TRF 1 interacting nuclear factor 2; TRF1 interacting nuclear factor 2; TRF1-interacting nuclear protein 2

Target 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.