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 Mitochondrial Complex Iii Deficiency. GO annotations related to this gene include identical protein binding.
UniProtKB/Swiss-Prot for TTC19 Gene
Mitochondrial protein required for formation of the mitochondrial complex III (PubMed:21278747). May also be required for the abcission step in cytokinesis, possibly regulating the ESCRT-III complex via its interaction with CHMP4B (PubMed:20208530). However, the involvement in cytokinesis requires additional experimental evidence.