Aliases for TTC19 Gene
External Ids for TTC19 Gene
Previous GeneCards Identifiers for TTC19 Gene
This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]
GeneCards Summary for TTC19 Gene
TTC19 (Tetratricopeptide Repeat Domain 19) is a Protein Coding gene. Diseases associated with TTC19 include Mitochondrial Complex Iii Deficiency, Nuclear Type 2 and Isolated Complex Iii Deficiency. Gene Ontology (GO) annotations related to this gene include identical protein binding.
UniProtKB/Swiss-Prot Summary for TTC19 Gene
Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1 (PubMed:21278747, PubMed:28673544). Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity (PubMed:28673544).