COQ5

Chr 12q24.31

coenzyme Q5, methyltransferase

Aliases:: MGC4767
MANE:: ENST00000288532.11

OMIM: 616359 ↗NCBI: 84274 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

COQ5 · Q5HYK3

v62025-08-01

Predicted Aligned Error matrix for COQ5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.6/ 100

Confident

327 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)31%
Low(50–70)5%
Very low(< 50)14%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.53
coenzyme q10 deficiency, primary, 9
0.50
inborn mitochondrial metabolism disorder
0.32
mitochondrial disease
0.32
Parkinson disease
0.31
lysosomal storage disease
0.31
multiple sclerosis
0.31
Alzheimer disease
0.31
myocardial infarction
0.13
mathematical ability
0.05

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

Protein function (UniProt)

2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial

Methyltransferase required for the conversion of 2-decaprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-decaprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2)