AlphaFold predicted structure
COA3 · Q9Y2R0
Mean pLDDT
77.4/ 100
Confident
106 residues
Confidence breakdown
- Very high(≥ 90)27%
- Confident(70–90)39%
- Low(50–70)30%
- Very low(< 50)4%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
COA3
Chr 17q21.2cytochrome c oxidase assembly factor 3
- Aliases:
- HSPC009, MITRAC12, COX25, hCOA3
- MANE:
- ENST00000328434.8
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorder with complex IV deficiency
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Intellectual disability
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
neurodegenerative disease
0.54Isolated cytochrome C oxidase deficiency
0.45leigh syndrome due to mitochondrial complex iv deficiency
0.33mitochondrial complex IV deficiency, nuclear type 14
0.25hyperlipoproteinemia type V
0.05Hyperlipoproteinemia type 5
0.05Hyperlipoproteinemia type 1
0.05hypertriglyceridemia 2
0.05hereditary hypercarotenemia and vitamin A deficiency
0.05apolipoprotein c-III deficiency
0.04
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cytochrome c oxidase assembly factor 3 homolog, mitochondrial
Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrial respiratory chain complex IV assembly