ACSM6: Acyl-CoA Synthetase Medium-Chain Family Member 6
Comprehensive genomic and functional overview of ACSM6, a medium-chain acyl-CoA synthetase involved in fatty acid metabolism.
Gene Information Card
| Symbol | ACSM6 |
|---|---|
| Full Name | acyl-CoA synthetase medium-chain family member 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.13 |
| NCBI Gene ID | 345275 ncbi.nlm.nih.gov/gene/345275 |
| Ensembl ID | ENSG00000166169 |
| UniProt ID | Q5T8P6 |
| OMIM ID | 617870 |
| HGNC ID | 26817 |
| Aliases | MGC131853, FLJ22679 |
Description
ACSM6 (acyl-CoA synthetase medium-chain family member 6) encodes a member of the acyl-CoA synthetase family that activates medium-chain fatty acids by catalyzing the conversion of fatty acids to acyl-CoAs. This enzyme plays a role in lipid metabolism and mitochondrial beta-oxidation. The gene is located on chromosome 10q26.13 and is predominantly expressed in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) | ACSM6 may modulate substrate availability for beta-oxidation; direct causal link not established. | No direct evidence in ClinVar or OMIM for ACSM6 in MCADD. |
| Obesity and metabolic syndrome | Altered fatty acid activation may influence lipid accumulation and energy homeostasis. | Expression changes observed in metabolic tissues; no validated pathogenic variants. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 4.1 | Low |
| Adipose tissue | 2.0 | Low |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 3.8 | Embryonic kidney cells |
| Caco-2 | 2.1 | Colorectal adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | 0.0001 (gnomAD) | Unknown functional impact; not reported in ClinVar. |
| c.452A>G (p.Asn151Ser) | Missense | 0.0002 (gnomAD) | Predicted benign by in silico tools. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants described.
Dominant Negative (DN)
No dominant-negative mechanisms reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003987 - acetate-CoA ligase activity | • GO:0006631 - fatty acid metabolic process |
| • GO:0005739 - mitochondrion | • GO:0016874 - ligase activity |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• Beta-oxidation of medium-chain fatty acids (KEGG: map00071)
Protein Summary
ACSM6 is a 576-amino acid protein localized to the mitochondrion. It catalyzes the ATP-dependent activation of medium-chain fatty acids (C6-C12) to their corresponding acyl-CoA thioesters, a critical step for subsequent beta-oxidation. The protein contains a conserved AMP-binding domain characteristic of the acyl-CoA synthetase family. Expression is highest in liver and kidney, consistent with roles in fatty acid catabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSM6 Knockout HEK293 Cell Line | EDJ-KQ10195 | Human | 142827 | Details Get a Quote |
| ACSM6 Knockout HeLa Cell Line | EDJ-KQ58480 | Human | 142827 | Details Get a Quote |
| ACSM6 Knockout A-549 Cell Line | EDJ-KQ66968 | Human | 142827 | Details Get a Quote |
| ACSM6 Knockout HCT 116 Cell Line | EDJ-KQ75368 | Human | 142827 | Details Get a Quote |
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