AlphaFold predicted structure
TTC19 · Q6DKK2
Mean pLDDT
79.2/ 100
Confident
380 residues
Confidence breakdown
- Very high(≥ 90)72%
- Confident(70–90)3%
- Low(50–70)1%
- Very low(< 50)24%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TTC19
Chr 17p12tetratricopeptide repeat domain 19
- Aliases:
- FLJ20343, MGC19520
- MANE:
- ENST00000261647.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomalAtaxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorder with complex III deficiency
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Isolated CoQ-cytochrome C reductase deficiency
0.79mitochondrial complex III deficiency
0.70mitochondrial disease
0.64inborn mitochondrial metabolism disorder
0.60hereditary disease
0.45Leigh syndrome
0.37Renal tubulopathy - encephalopathy - liver failure
0.37mitochondrial complex III deficiency nuclear type 1
0.37asthma
0.32chronic rhinosinusitis
0.31
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Tetratricopeptide repeat protein 19, mitochondrial
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)
Diseases associated with TTC19
Curated MONDO disease pages that list TTC19 among their top associated genes.