TTI2

Description

The TTI2 (TELO2 interacting protein 2) is a protein-coding gene located on chromosome 8.

TTI2, encoded by the TTI2 gene in humans, is a protein involved in regulating the DNA damage response. It forms part of the Triple T complex (TTT), which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex contributes to cellular resistance against DNA damage and might regulate the abundance of phosphoinositide-3-kinase-related protein kinase (PIKK).

TTI2 plays a crucial role in responding to DNA damage. It is part of the TTT complex, essential for maintaining the levels of proteins belonging to the PIKK family. The TTT complex safeguards cells against DNA damage caused by factors like ionizing radiation, UV light, and mitomycin C. In collaboration with the TTT complex and HSP90, TTI2 might contribute to the proper folding of newly synthesized PIKK proteins.

TTI2 is also known as C8orf41, MRT39.

Associated Diseases

• Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
• Mental retardation, autosomal recessive 39