RHEB Chromosome 7
Ras homolog, mTORC1 binding
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What This Gene Does
This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
RAS type GTPase family
Locus Type
gene with protein product
Location
7q36.1
Ensembl
ENSG00000106615
Associated Conditions (3)
Intellectual disability
Hemimegalencephaly
Isolated focal cortical dysplasia type II
Key Variants
RS2536111808
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS1554438588
Likely pathogenic
Hemimegalencephaly, Hemimegalencephaly
Health Risk
RS1057519950
Pathogenic
Health Risk
RS2536111758
Pathogenic
Isolated focal cortical dysplasia type II, Isolated focal cortical dysplasia type II
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2536111808 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS1554438588 | Health Risk | Likely pathogenic | Hemimegalencephaly, Hemimegalencephaly |
| RS1057519950 | Health Risk | Pathogenic | — |
| RS2536111758 | Health Risk | Pathogenic | Isolated focal cortical dysplasia type II, Isolated focal cortical dysplasia type II |