Aliases for TBC1D7 Gene
External Ids for TBC1D7 Gene
Previous GeneCards Identifiers for TBC1D7 Gene
This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
GeneCards Summary for TBC1D7 Gene
TBC1D7 (TBC1 Domain Family, Member 7) is a Protein Coding gene. Diseases associated with TBC1D7 include macrocephaly/megalencephaly syndrome, autosomal recessive and isolated megalencephaly.
UniProtKB/Swiss-Prot for TBC1D7 Gene
Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question.