TINF2 Antibody – Rabbit Polyclonal

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]

TINF2: 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. Defects in TINF2 are a cause of dyskeratosis congenita autosomal dominant type 3 (DKCA3). A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. 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); also known as Revesz syndrome. ERBMF is characterized by bilateral exudative retinopathy, bone marrow hypoplasia, nail dystrophy, fine hair, cerebellar hypoplasia, and growth retardation. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell cycle regulation

Chromosomal Location of Human Ortholog: 14q12

Cellular Component: nucleoplasm; chromosome, telomeric region; nuclear telomere cap complex; nuclear matrix; nucleus

Molecular Function: protein binding; DNA binding; telomeric DNA binding

Biological Process: telomere assembly; positive regulation of telomere maintenance; telomere maintenance; negative regulation of telomere maintenance via telomerase; negative regulation of epithelial cell proliferation

Disease: Dyskeratosis Congenita, Autosomal Dominant, 3; Dyskeratosis Congenita, Autosomal Dominant, 1; Revesz Syndrome