| UniProt Protein Function: | TTC19: 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. Defects in TTC19 are a cause of mitochondrial complex III deficiency (MT-C3D). A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. Belongs to the TTC19 family.Protein type: MitochondrialChromosomal Location of Human Ortholog: 17p12Cellular Component: centrosome; mitochondrion; mitochondrial inner membrane; midbodyMolecular Function: protein bindingBiological Process: cytokinesisDisease: Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
| UniProt Protein Details: | |
| NCBI Summary: | 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] |
| UniProt Code: | Q6DKK2 |
| NCBI GenInfo Identifier: | 406601116 |
| NCBI Gene ID: | 54902 |
| NCBI Accession: | NP_001258349.1 |
| UniProt Secondary Accession: | Q6DKK2,Q2M248, Q7L3U8, Q9H6G3, Q9NXB2, A8MZ52, B3KP62 B4DN65 |
| UniProt Related Accession: | Q6DKK2 |
| Molecular Weight: | 42,457 Da |
| NCBI Full Name: | tetratricopeptide repeat protein 19, mitochondrial isoform 2 |
| NCBI Synonym Full Names: | tetratricopeptide repeat domain 19 |
| NCBI Official Symbol: | TTC19Â Â |
| NCBI Official Synonym Symbols: | MC3DN2; 2010204O13Rik  |
| NCBI Protein Information: | tetratricopeptide repeat protein 19, mitochondrial; TPR repeat protein 19 |
| UniProt Protein Name: | Tetratricopeptide repeat protein 19, mitochondrial |
| UniProt Synonym Protein Names: | |
| Protein Family: | Tetratricopeptide repeat protein |
| UniProt Gene Name: | TTC19Â Â |
| UniProt Entry Name: | TTC19_HUMAN |
