Aliases for THOC6 Gene
External Ids for THOC6 Gene
Previous HGNC Symbols for THOC6 Gene
Previous GeneCards Identifiers for THOC6 Gene
This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]
GeneCards Summary for THOC6 Gene
THOC6 (THO Complex 6) is a Protein Coding gene. Diseases associated with THOC6 include Beaulieu-Boycott-Innes Syndrome and Thoc6 Intellectual Disability Syndrome. Among its related pathways are mRNA Splicing - Major Pathway and RNA Polymerase II Transcription Termination. Gene Ontology (GO) annotations related to this gene include RNA binding.
UniProtKB/Swiss-Prot Summary for THOC6 Gene
Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Plays a role in apoptosis negative control involved in brain development.