TINF2 : TERF1 interacting nuclear factor 2
Description
The TINF2 (TERF1 interacting nuclear factor 2) is a protein-coding gene located on chromosome 14.
The TINF2 gene provides instructions for making a component of the shelterin protein complex. This complex safeguards telomeres, protective caps at chromosome ends, preventing them from sticking together or degrading. Shelterin shields telomeres from DNA repair processes, which otherwise would misinterpret chromosome ends as damaged DNA, leading to inappropriate joining or cell death.
TINF2 is a crucial component of the shelterin complex, a group of proteins essential for telomere maintenance. Shelterin binds to telomeres, the protective caps at the ends of chromosomes, shielding them from the DNA repair machinery. Without shelterin's protective function, telomeres become vulnerable to improper repair processes, potentially leading to chromosome instability and cell dysfunction. TINF2 plays a role in assembling the shelterin complex, and its isoform 1 may also help anchor telomeres to the nuclear matrix.
TINF2 is also known as DKCA3, TIN2.
Associated Diseases
- Dyskeratosis congenita, autosomal dominant, 1
- Revesz syndrome
- Dyskeratosis congenita, autosomal dominant 3
- Dyskeratosis congenita
- Hoyeraal-Hreidarsson syndrome
- Idiopathic pulmonary fibrosis
