ACOT6: Acyl-CoA Thioesterase 6
Gene encoding a peroxisomal acyl-CoA thioesterase involved in fatty acid metabolism
Gene Information Card
| Symbol | ACOT6 |
|---|---|
| Full Name | Acyl-CoA Thioesterase 6 |
| Gene Type | Protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 641372 ncbi.nlm.nih.gov/gene/641372 |
| Ensembl ID | ENSG00000197958 |
| UniProt ID | Q5VXZ0 |
| OMIM ID | 614343 |
| HGNC ID | 33181 |
| Aliases | PTE-2, PTE2, ACOT6 |
Description
ACOT6 encodes a member of the acyl-CoA thioesterase family that catalyzes the hydrolysis of acyl-CoAs to free fatty acids and coenzyme A. The enzyme is localized to peroxisomes and is involved in lipid metabolism, particularly in the breakdown of medium- and long-chain fatty acyl-CoAs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Small intestine | 6.1 | Low |
| Adipose tissue | 4.2 | Low |
| Brain | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte-derived |
| HEK 293 | 2.1 | Low expression |
| K-562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No known loss-of-function variants reported
Gain of Function (GOF)
No known gain-of-function variants reported
Dominant Negative (DN)
No known dominant-negative variants reported
View complete mutation data：
Gene Ontology (GO)
| • ['GO:0003985' | • 'acetyl-CoA C-acetyltransferase activity'] |
| • ['GO:0016290' | • 'palmitoyl-CoA hydrolase activity'] |
| • ['GO:0005777' | • 'peroxisome'] |
| • ['GO:0006631' | • 'fatty acid metabolic process'] |
| • ['GO:0055088' | • 'lipid homeostasis'] |
Pathways
• ['Fatty acid metabolism'
• 'Reactome R-HSA-8978868']
• ['Peroxisomal lipid metabolism'
• 'Reactome R-HSA-8978869']
Protein Summary
ACOT6 is a peroxisomal acyl-CoA thioesterase that hydrolyzes acyl-CoAs to free fatty acids and CoA-SH. It prefers medium- to long-chain fatty acyl-CoAs and may regulate intracellular levels of acyl-CoAs, influencing lipid metabolism and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACOT6 Knockout HEK293 Cell Line | EDJ-KQ12260 | Human | 641372 | Details Get a Quote |
| ACOT6 Knockout HeLa Cell Line | EDJ-KQ60521 | Human | 641372 | Details Get a Quote |
| ACOT6 Knockout A-549 Cell Line | EDJ-KQ68990 | Human | 641372 | Details Get a Quote |
| ACOT6 Knockout HCT 116 Cell Line | EDJ-KQ77349 | Human | 641372 | Details Get a Quote |
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