RICTOR Chromosome 5
RPTOR independent companion of MTOR complex 2
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What This Gene Does
RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"MTOR complex 2|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
5p13.1
Ensembl
ENSG00000164327
Associated Conditions (2)
Premature ovarian failure
Inborn genetic diseases
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1329438711 | Health Risk | Likely pathogenic | Premature ovarian failure, Premature ovarian failure |
| RS1554059320 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |