ACSM4: Acyl-CoA Synthetase Medium Chain Family Member 4
Mitochondrial enzyme involved in fatty acid metabolism and xenobiotic detoxification
Gene Information Card
| Symbol | ACSM4 |
|---|---|
| Full Name | Acyl-CoA Synthetase Medium Chain Family Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.3 |
| NCBI Gene ID | 163176 ncbi.nlm.nih.gov/gene/163176 |
| Ensembl ID | ENSG00000183773 |
| UniProt ID | Q5JWF2 |
| OMIM ID | 614361 |
| HGNC ID | 26459 |
| Aliases | ACS, MACS4, FLJ20581 |
Description
ACSM4 encodes a member of the acyl-CoA synthetase medium-chain family. The enzyme activates medium-chain fatty acids (C4-C12) by converting them to acyl-CoA thioesters, facilitating their entry into mitochondrial beta-oxidation. It also participates in the detoxification of xenobiotic carboxylic acids. The protein is localized to the mitochondrial matrix.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) | ACSM4 may modulate substrate flux in beta-oxidation; indirect role | No direct association; inferred from pathway (NCBI Gene, OMIM) |
| Colorectal cancer | Altered expression of ACSM4 observed in tumor tissues | COSMIC database reports somatic mutations in colorectal cancer samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Colon | 4.7 | Low |
| Adipose tissue | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 3.4 | Embryonic kidney cells |
| Caco-2 | 5.8 | Colorectal adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants (e.g., start codon loss) are predicted to impair medium-chain fatty acid activation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003987 - acetate-CoA ligase activity | • GO:0005739 - mitochondrion |
| • GO:0006631 - fatty acid metabolic process | • GO:0016874 - ligase activity |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• Beta-oxidation of medium-chain fatty acids (KEGG: map00071)
Protein Summary
ACSM4 is a 576-amino acid mitochondrial acyl-CoA synthetase that activates medium-chain fatty acids (C4-C12) to their CoA derivatives. It is highly expressed in liver and kidney, supporting roles in energy metabolism and detoxification. The enzyme belongs to the ANL superfamily of adenylate-forming enzymes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSM4 Knockout HEK293 Cell Line | EDJ-KQ11501 | Human | 341392 | Details Get a Quote |
| ACSM4 Knockout HeLa Cell Line | EDJ-KQ59709 | Human | 341392 | Details Get a Quote |
| ACSM4 Knockout A-549 Cell Line | EDJ-KQ68182 | Human | 341392 | Details Get a Quote |
| ACSM4 Knockout HCT 116 Cell Line | EDJ-KQ76557 | Human | 341392 | Details Get a Quote |
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