TTI1 Chromosome 20
TELO2 interacting protein 1
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What This Gene Does
Involved in positive regulation of DNA damage checkpoint and regulation of TOR signaling. Located in cytoplasm. Part of TORC1 complex; TORC2 complex; and TTT Hsp90 cochaperone complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"TTT complex|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
20q11.23
Ensembl
ENSG00000101407
Associated Conditions (3)
Neurodevelopmental disorder with microcephaly and movement abnormalities
Abnormal brain morphology
Severe intellectual disability
Key Variants
RS2515417992
Likely pathogenic
Health Risk
RS2515462014
Likely pathogenic
Neurodevelopmental disorder with microcephaly and movement abnormalities, Neurodevelopmental disorder with microcephaly and movement abnormalities
Health Risk
RS375131638
Likely pathogenic
Abnormal brain morphology, Neurodevelopmental disorder with microcephaly and movement abnormalities, Abnormal brain morphology
Health Risk
RS760000075
Likely pathogenic
Severe intellectual disability, Severe intellectual disability
Health Risk
RS1568621484
Pathogenic
Neurodevelopmental disorder with microcephaly and movement abnormalities, Neurodevelopmental disorder with microcephaly and movement abnormalities
Health Risk
RS2515417949
Pathogenic
Severe intellectual disability, Severe intellectual disability
Health Risk
RS2515418088
Pathogenic
Neurodevelopmental disorder with microcephaly and movement abnormalities, Neurodevelopmental disorder with microcephaly and movement abnormalities
Health Risk
RS997493451
Pathogenic
Neurodevelopmental disorder with microcephaly and movement abnormalities, Neurodevelopmental disorder with microcephaly and movement abnormalities
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2515417992 | Health Risk | Likely pathogenic | — |
| RS2515462014 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly and movement abnormalities, Neurodevelopmental disorder with microcephaly and movement abnormalities |
| RS375131638 | Health Risk | Likely pathogenic | Abnormal brain morphology, Neurodevelopmental disorder with microcephaly and movement abnormalities, Abnormal brain morphology |
| RS760000075 | Health Risk | Likely pathogenic | Severe intellectual disability, Severe intellectual disability |
| RS1568621484 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly and movement abnormalities, Neurodevelopmental disorder with microcephaly and movement abnormalities |
| RS2515417949 | Health Risk | Pathogenic | Severe intellectual disability, Severe intellectual disability |
| RS2515418088 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly and movement abnormalities, Neurodevelopmental disorder with microcephaly and movement abnormalities |
| RS997493451 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly and movement abnormalities, Neurodevelopmental disorder with microcephaly and movement abnormalities |