OXCT1: 3-Oxoacid CoA-Transferase 1
Key enzyme in ketone body metabolism and succinyl-CoA:3-ketoacid CoA-transferase deficiency
Gene Information Card
| Symbol | OXCT1 |
|---|---|
| Full Name | 3-Oxoacid CoA-Transferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p13.1 |
| NCBI Gene ID | 5019 ncbi.nlm.nih.gov/gene/5019 |
| Ensembl ID | ENSG00000113520 |
| UniProt ID | P55809 |
| OMIM ID | 601424 |
| HGNC ID | 8527 |
| Aliases | SCOT, OXCT, OXCT1 |
Description
OXCT1 encodes the mitochondrial enzyme succinyl-CoA:3-ketoacid CoA-transferase (SCOT), which catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate, forming acetoacetyl-CoA. This is the rate-limiting step in ketone body utilization, enabling tissues such as the brain, heart, and skeletal muscle to use ketone bodies as an energy source during fasting or starvation. Mutations in OXCT1 cause succinyl-CoA:3-ketoacid CoA-transferase (SCOT) deficiency, a rare autosomal recessive disorder characterized by severe ketoacidosis and impaired ketone body catabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Succinyl-CoA:3-ketoacid CoA-transferase deficiency | Loss-of-function mutations in OXCT1 impair ketone body utilization, leading to accumulation of acetoacetate and β-hydroxybutyrate, causing recurrent severe ketoacidosis. | OMIM #245050; ClinVar pathogenic variants; case reports in NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 58.2 | High |
| Skeletal muscle | 42.1 | High |
| Kidney | 35.6 | High |
| Brain | 22.4 | Medium |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 45.0 | High expression in kidney-derived cells |
| HeLa | 30.2 | Moderate expression |
| HepG2 | 8.1 | Low expression in liver-derived cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.517C>T (p.Arg173*) | Nonsense | Rare | Premature stop codon; loss of SCOT activity |
| c.746G>A (p.Arg249His) | Missense | Rare | Reduced enzyme activity; associated with SCOT deficiency |
| c.1135C>T (p.Arg379Trp) | Missense | Rare | Impaired substrate binding; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Most OXCT1 mutations are loss-of-function, leading to SCOT deficiency with impaired ketone body catabolism.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented; SCOT deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • succinyl-CoA:3-ketoacid CoA-transferase activity (GO:0008260) | • mitochondrion (GO:0005739) |
| • ketone body catabolic process (GO:0046951) | • fatty acid metabolic process (GO:0006631) |
Pathways
• Ketone body metabolism (Reactome: R-HSA-77111)
• Metabolism of lipids (Reactome: R-HSA-556833)
Protein Summary
The OXCT1 protein (SCOT) is a mitochondrial homodimer of 520 amino acids (56 kDa). It catalyzes the CoA transfer from succinyl-CoA to acetoacetate, producing acetoacetyl-CoA and succinate. This reaction is essential for ketone body oxidation in extrahepatic tissues. SCOT deficiency leads to episodic ketoacidosis, often triggered by fasting or illness. The enzyme is highly expressed in heart, skeletal muscle, kidney, and brain, but low in liver, consistent with ketone body utilization patterns.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OXCT1 Knockout HEK293 Cell Line | EDJ-KQ5391 | Human | 5019 | Details Get a Quote |
| OXCT1 Knockout HCT 116 Cell Line | EDJ-KQ27290 | Human | 5019 | Details Get a Quote |
| OXCT1 Knockout A-549 Cell Line | EDJ-KQ28528 | Human | 5019 | Details Get a Quote |
| OXCT1 Knockout HeLa Cell Line | EDJ-KQ28530 | Human | 5019 | Details Get a Quote |
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