COX16

Chr 14q24.2

cytochrome c oxidase assembly factor COX16

Aliases:: HSPC203
MANE:: ENST00000389912.7

OMIM: 618064 ↗NCBI: 51241 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

COX16 · Q9P0S2

v62025-08-01

Predicted Aligned Error matrix for COX16 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.7/ 100

Confident

106 residues

Confidence breakdown

Very high(≥ 90)10%
Confident(70–90)57%
Low(50–70)32%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.54
mitochondrial complex IV deficiency, nuclear type 22
0.54
Isolated cytochrome C oxidase deficiency
0.37
Encephalopathy
0.25
hypertrophic cardiomyopathy
0.25
placental abruption
0.24
mitochondrial disease
0.19
inborn mitochondrial metabolism disorder
0.19
prostate carcinoma
0.15
Hypercholesterolemia
0.15

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

Protein function (UniProt)

Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial

Required for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:29355485, PubMed:29381136, PubMed:33169484). Promotes the insertion of copper into the active site of cytochrome c oxidase subunit II (MT-CO2/COX2) (PubMed:29355485, PubMed:29381136). Interacts specifically with newly synthesized MT-CO2/COX and its copper center-forming metallochaperones SCO1, SCO2 and COA6 (PubMed:29381136). Probably facilitates MT-CO2/COX2 association with the MITRAC assembly intermediate containing MT-CO1/COX1, thereby participating in merging the MT-CO1/COX1 and MT-CO2/COX2 assembly lines (PubMed:29381136)