Aliases: MGCPH, PIG51, TBC7
Chromosome No: 6
Chromosome Band: 6p24.1
Genetic Category: Functional-Rare single gene variant-
ASD Reports: 5
Recent Reports: 2
Annotated variants: 3
Associated CNVs: 9
Evidence score: null
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Relevance to Autism
TBC1D7 forms a complex with two syndromic ASD genes, TSC1 and TSC2 (Dibble et al., 2012). A homozygous frameshift deletion variant in the TBC1D7 gene (c.538delT; p.Tyr180fsTer1), which abolished TBC1D7 expression and was associated with increased mTORC1 signalling, was detected in two affected siblings born to consanguineous parents presenting with intellectual disability and megalencephaly but without any specific features of tuberous sclerosis complex (TSC); both parents and an unaffected sibling were heterozygous for the variant (Capo-Chichi et al., 2013).
Molecular Function
Component of the TSC-TBC complex composed of the TSC1-TSC2 heterodimer and TBC1D7. Interacts with TSC1 (via C-terminal half of the coiled-coil domain) and participates in GTPase-activating protein activity, leading to inhibition of the TOR signaling cascade. TBC1D7 knockdown decreases the association of TSC1 and TSC2 and results in increased mTORC1 signaling, delayed induction of autophagy, and enhanced cell growth under poor growth conditions (Dibble et al., 2012).
External Links
