TTI2 gene

TELO2 interacting protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]

From UniProt:

Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs.

From NCBI Gene:

  • Mental retardation, autosomal recessive 39

From UniProt:

Mental retardation, autosomal recessive 39 (MRT39): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT39 affected individuals show delayed psychomotor development, severe speech delay, short stature, kyphoscoliosis, and dysmorphic facial features. Behavioral abnormalities include hyperactivity, aggression, and stereotypic movements. [MIM:615541]

Cytogenetic Location: 8p12, which is the short (p) arm of chromosome 8 at position 12

Molecular Location: base pairs 33,498,509 to 33,513,601 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8p12, which is the short (p) arm of chromosome 8 at position 12
  • C8orf41
  • MRT39