Aliases for TBC1D20 Gene
External Ids for TBC1D20 Gene
Previous HGNC Symbols for TBC1D20 Gene
Previous GeneCards Identifiers for TBC1D20 Gene
This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
GeneCards Summary for TBC1D20 Gene
TBC1D20 (TBC1 Domain Family Member 20) is a Protein Coding gene. Diseases associated with TBC1D20 include Warburg Micro Syndrome 4 and Warburg Micro Syndrome 1. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rab GTPase binding.
UniProtKB/Swiss-Prot Summary for TBC1D20 Gene
GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.