COX11

Chr 17q22

cytochrome c oxidase copper chaperone COX11

Aliases:: COX11P
MANE:: ENST00000299335.8

OMIM: 603648 ↗NCBI: 1353 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

COX11 · Q9Y6N1

v62025-08-01

Predicted Aligned Error matrix for COX11 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.2/ 100

Confident

276 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)18%
Low(50–70)16%
Very low(< 50)24%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
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
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

mitochondrial complex IV deficiency, nuclear type 23
0.70
neurodegenerative disease
0.53
breast carcinoma
0.27
Abnormality of the skeletal system
0.19
luminal A breast carcinoma
0.18
breast cancer
0.18
ovarian carcinoma
0.14
contracture
0.12
estrogen-receptor positive breast cancer
0.10
psoriasis
0.09

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

Protein function (UniProt)

Cytochrome c oxidase assembly protein COX11, mitochondrial

Assembly factor for cytochrome c oxidase (respiratory chain complex IV, CIV) (PubMed:35750769). Probably acts as a metallochaperone that delivers copper to the copper B site of COX1 (PubMed:35750769)