ACACA

Chr 17q12

acetyl-CoA carboxylase alpha

Aliases:: ACC1, ACC-alpha, ACCA, ACCalpha, ACACalpha
MANE:: ENST00000616317.5

OMIM: 200350 ↗NCBI: 31 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ACACA · Q13085

v62025-08-01

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

Mean pLDDT

82.8/ 100

Confident

2,346 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)46%
Low(50–70)5%
Very low(< 50)8%

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

Disease associations (Open Targets)

neurodegenerative disease
0.55
Alzheimer disease
0.46
multiple sclerosis
0.46
Parkinson disease
0.46
lysosomal storage disease
0.46
autoimmune disorder of central nervous system
0.38
acne
0.36
Abnormality of the skeletal system
0.35
alcohol drinking
0.25
Abnormality of the integument
0.23

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

Protein function (UniProt)

Acetyl-CoA carboxylase 1

Cytosolic enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis (PubMed:20457939, PubMed:20952656, PubMed:29899443). This is a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA (PubMed:20457939, PubMed:20952656, PubMed:29899443)