ACSF3

Chr 16q24.3

acyl-CoA synthetase family member 3

MANE:: ENST00000614302.5

OMIM: 614245 ↗NCBI: 197322 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ACSF3 · Q4G176

v62025-08-01

Predicted Aligned Error matrix for ACSF3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.2/ 100

Confident

576 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)19%
Low(50–70)6%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia
Intellectual disability
Unknown

Disease associations (Open Targets)

combined malonic and methylmalonic acidemia
0.82
hereditary disease
0.49
methylmalonic acidemia
0.48
Abnormality of skin pigmentation
0.42
actinic keratosis
0.35
skin sensitivity to sun
0.35
hair color
0.30
bacterial pneumonia
0.26
ovarian dysfunction
0.24
skin cancer
0.18

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

Protein function (UniProt)

Malonate--CoA ligase ACSF3, mitochondrial

Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester (PubMed:21841779, PubMed:21846720). May have some preference toward very-long-chain substrates (PubMed:17762044)