Aliases: RHEB2
Chromosome No: 7
Chromosome Band: 7q36.1
Genetic Category: Syndromic-Rare single gene variant-Functional
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 10
Evidence score: 0
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Relevance to Autism
Analysis of 101 mTOR-related genes in a cohort of 826 patients with intellectual disability (ID) identified three individuals from two families with de novo missense variants in the RHEB gene that, in addition to ID, presented with macrocephaly and autism spectrum disorder/autistic features; functional analysis of both RHEB missense variants in animal models revealed increased head size in zebrafish and aberrant neuronal migration and induction of seizures in mice (Reijnders et al., 2017).
Molecular Function
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.
External Links
