CROT (Carnitine O-Octanoyltransferase)
Peroxisomal beta-oxidation enzyme involved in medium-chain fatty acid metabolism
Gene Information Card
| Symbol | CROT |
|---|---|
| Full Name | Carnitine O-Octanoyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.12 |
| NCBI Gene ID | 54677 ncbi.nlm.nih.gov/gene/54677 |
| Ensembl ID | ENSG00000106537 |
| UniProt ID | Q9UKG9 |
| OMIM ID | 606090 |
| HGNC ID | 2366 |
| Aliases | COT, OCTN2, carnitine octanoyltransferase |
Description
CROT encodes carnitine O-octanoyltransferase, a peroxisomal enzyme that catalyzes the reversible transfer of medium-chain fatty acids between coenzyme A and carnitine. It plays a key role in peroxisomal beta-oxidation and the transport of medium-chain acylcarnitines out of peroxisomes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) | CROT variants may alter carnitine shuttle function, but direct causal link not established | ClinVar |
| Carnitine deficiency | Impaired CROT activity reduces medium-chain acylcarnitine formation, affecting fatty acid oxidation | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Heart | 6.1 | Low |
| Skeletal muscle | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocyte line |
| HEK293 | 7.8 | Embryonic kidney |
| HeLa | 5.3 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Reduced enzyme activity |
| c.374C>T | Nonsense | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that reduce or abolish enzymatic activity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • carnitine O-octanoyltransferase activity (GO:0004095) | • peroxisome (GO:0005777) |
| • fatty acid transport (GO:0015908) | • fatty acid beta-oxidation (GO:0033540) |
Pathways
• Peroxisomal beta-oxidation (Reactome: R-HSA-390247)
• Fatty acid metabolism (KEGG: hsa00071)
Protein Summary
Carnitine O-octanoyltransferase is a 612-amino acid peroxisomal enzyme that transfers medium-chain (C6–C12) fatty acids from CoA to carnitine, facilitating their export from peroxisomes for mitochondrial oxidation. It is essential for efficient beta-oxidation of medium-chain fatty acids.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CROT Knockout HEK293 Cell Line | EDJ-KQ11480 | Human | 54677 | Details Get a Quote |
| CROT Knockout A-549 Cell Line | EDJ-KQ39805 | Human | 54677 | Details Get a Quote |
| CROT Knockout HeLa Cell Line | EDJ-KQ39806 | Human | 54677 | Details Get a Quote |
| CROT Knockout HCT 116 Cell Line | EDJ-KQ73393 | Human | 54677 | Details Get a Quote |
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