telomere maintenance 2
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Diagnostic Grade (Green)
Clefting
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalTELO2-related intellectual disability-neurodevelopmental disorder
neurodegenerative disease
lysosomal storage disease
hereditary disease
microcephaly
central nervous system cancer
glioma
colorectal carcinoma
glioblastoma
otosclerosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Telomere length regulation protein TEL2 homolog
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. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals. May be involved in telomere length regulation
TELO2 · Q9Y4R8
Mean pLDDT
83.9/ 100
Confident
837 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
