CRAT

Chr 9q34.11

carnitine O-acetyltransferase

Aliases:: CAT1
MANE:: ENST00000318080.7

OMIM: 600184 ↗NCBI: 1384 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CRAT · P43155

v62025-08-01

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

Mean pLDDT

94.6/ 100

Very high

626 residues

Confidence breakdown

Very high(≥ 90)92%
Confident(70–90)3%
Low(50–70)1%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegeneration with brain iron accumulation 8
0.48
neurodegeneration with brain iron accumulation
0.34
neurodegenerative disease
0.30
Alzheimer disease
0.25
Parkinson disease
0.25
lysosomal storage disease
0.25
multiple sclerosis
0.25
respiratory system disorder
0.24
Leigh syndrome
0.19
atopic eczema
0.16

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

Protein function (UniProt)

Carnitine O-acetyltransferase

Catalyzes the reversible transfer of acyl groups from carnitine to coenzyme A (CoA) and regulates the acyl-CoA/CoA ratio. Also plays a crucial role in the transport of fatty acids for beta-oxidation (PubMed:15099582, PubMed:29395073). Responsible for the synthesis of short- and branched-chain acylcarnitines (PubMed:23485643). Active towards some branched-chain amino acid oxidation pathway (BCAAO) intermediates (PubMed:23485643). Trans-2-enoyl-CoAs and 2-methylacyl-CoAs are poor substrates (PubMed:23485643)