OXCT2: 3-Oxoacid CoA-Transferase 2
Mitochondrial succinyl-CoA:3-ketoacid CoA transferase involved in ketone body metabolism
Gene Information Card
| Symbol | OXCT2 |
|---|---|
| Full Name | 3-Oxoacid CoA-Transferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q9BXD5 |
| OMIM ID | 601830 |
| HGNC ID | 8528 |
| Aliases | SCOT-t, SCOT2, OXCT2a |
Description
OXCT2 encodes a mitochondrial succinyl-CoA:3-ketoacid CoA transferase (SCOT) that catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate, forming acetoacetyl-CoA. This enzyme is essential for ketone body utilization in extrahepatic tissues, particularly during fasting or starvation. OXCT2 is a paralog of OXCT1 and is predominantly expressed in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Succinyl-CoA:3-ketoacid CoA transferase deficiency | Loss-of-function mutations in OXCT2 impair ketone body catabolism, leading to metabolic acidosis and ketosis | ClinVar, OMIM |
| Testicular germ cell tumors | Altered OXCT2 expression may contribute to metabolic reprogramming in testicular cancer | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 3.2 | Low |
| Kidney | 1.8 | Low |
| Heart | 1.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 8.7 | Testicular origin |
| Neuroblastoma cell line (SH-SY5Y) | 4.1 | Neuronal origin |
| HEK293 | 2.3 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Reduced enzyme activity |
| c.200delG (p.Gly67Valfs*12) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to truncated or unstable protein, e.g., frameshift or nonsense variants, cause SCOT deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for OXCT2.
Dominant Negative (DN)
No dominant-negative mutations reported for OXCT2.
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
OXCT2 is a 520-amino acid mitochondrial enzyme that forms a homodimer. It catalyzes the conversion of acetoacetate to acetoacetyl-CoA using succinyl-CoA as a CoA donor, a key step in ketone body oxidation. The protein is highly expressed in testis and moderately in brain, with lower levels in other tissues. Structural studies indicate a conserved CoA-binding domain and active site residues critical for catalysis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OXCT2 Knockout HEK293 Cell Line | EDJ-KQ14651 | Human | 64064 | Details Get a Quote |
| OXCT2 Knockout HCT 116 Cell Line | EDJ-KQ44930 | Human | 64064 | Details Get a Quote |
| OXCT2 Knockout HeLa Cell Line | EDJ-KQ44931 | Human | 64064 | Details Get a Quote |
| OXCT2 Knockout A-549 Cell Line | EDJ-KQ65519 | Human | 64064 | Details Get a Quote |
