COX18

Chr 4q13.3

cytochrome c oxidase assembly factor COX18

Aliases:: FLJ38991, OXA1L2
MANE:: ENST00000507544.3

OMIM: 610428 ↗NCBI: 285521 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

COX18 · Q8N8Q8

v62025-08-01

Predicted Aligned Error matrix for COX18 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.2/ 100

Confident

333 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)15%
Low(50–70)2%
Very low(< 50)15%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.56
Charcot-Marie-Tooth disease
0.53
mitochondrial disease
0.52
inborn mitochondrial metabolism disorder
0.52
ocular hypotension
0.29
sialadenitis
0.29
prostate carcinoma
0.25
pneumothorax
0.16
pleural empyema
0.16
response to statin
0.16

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytochrome c oxidase assembly protein COX18, mitochondrial

Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT-CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT-CO2/COX2 maturation following the COX20-mediated stabilization of newly synthesized MT-CO2/COX2 protein and before the action of the metallochaperones SCO1/2. Essential for the assembly and stability of the mitochondrial respiratory chain complex IV (also known as cytochrome c oxidase)