TTI1 TELO2 interacting protein 1
Gene ID: 9675, updated on 29-Oct-2024Gene type: protein coding
Also known as: NEDMIM; smg-10; KIAA0406
- See all available tests in GTR for this gene
- Go to complete Gene record for TTI1
- Go to Variation Viewer for TTI1 variants
Summary
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, Oct 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Neurodevelopmental disorder with microcephaly and movement abnormalities | not available |
Genomic context
- Location:
- 20q11.23
- Sequence:
- Chromosome: 20; NC_000020.11 (37983021..38033456, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TTI1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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