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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ACSM4
acyl-CoA synthetase medium chain family member 4
Chromosome 12 Β· 12p13.31
NCBI Gene: 341392Ensembl: ENSG00000215009.6HGNC: HGNC:32016UniProt: P0C7M7
7PubMed Papers
18Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionfatty acid ligase activityfatty-acyl-CoA synthase activitydecanoate-CoA ligase activitybone fracturemusculoskeletal system diseaseSjogren syndromeAIDS
✦AI Summary

ACSM4 (acyl-CoA synthetase medium chain family member 4) is a mitochondrial enzyme that catalyzes the activation of medium-chain fatty acids (C6-12) to acyl-CoA, the initial step in fatty acid metabolism. Located in the mitochondrial matrix, ACSM4 functions as a fatty-acyl-CoA synthase in lipid metabolic pathways. Beyond its canonical metabolic role, ACSM4 expression levels have clinical significance in cancer prognosis. A two-gene prognostic signature incorporating ACSM4 and SPDYC was identified as independently associated with poor prognosis in triple negative breast cancer (TNBC) patients, with elevated ACSM4 expression correlating with worse distant metastasis-free survival and breast cancer-specific survival 1. This prognostic association was validated at both mRNA and protein expression levels. Genetic variation in ACSM4 also influences HIV disease progression. Specific ACSM4 polymorphisms (rs7137120 and rs7961991) and their associated haplotypes show significant association with rapid AIDS progression in untreated HIV-infected patients, with odds ratios ranging from 2.85 to 3.60 2. Additionally, ACSM4 was identified among nuclear-encoded mitochondrial genes with SNPs significantly associated with AIDS progression rate 3. These findings suggest ACSM4's mitochondrial function may influence immune pathogenesis and tumor biology through metabolic mechanisms.

Sources cited
1
ACSM4 is part of a two-gene prognostic signature independently associated with poor prognosis in TNBC, with elevated expression correlating with worse survival outcomes
PMID: 32404959
2
ACSM4 polymorphisms (rs7137120 and rs7961991) are associated with rapid AIDS progression in HIV-infected patients
PMID: 23982661
3
ACSM4 SNPs show significant association with AIDS progression rate among nuclear-encoded mitochondrial genes
PMID: 20877624
4
ACSM4 expression is downregulated in stretched atrial myocytes involved in lipotoxic myopathy
PMID: 30567295
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜18
bone fractureOpen Targets
0.30Weak
musculoskeletal system diseaseOpen Targets
0.05Suggestive
Sjogren syndromeOpen Targets
0.02Suggestive
AIDSOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ACSM5Shared pathway100%ACSM6Shared pathway100%ACADSProtein interaction94%HSDL2Protein interaction79%ACSM2BShared pathway67%ACSM2AShared pathway50%
Tissue Expression6 tissues
Ovary
100%
Lung
13%
Liver
4%
Brain
3%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ACSM4ACSM5ACSM6ACADSHSDL2ACSM2BACSM2A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P0C7M7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.07LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.71–1.07]
RankingsWhere ACSM4 stands among ~20K protein-coding genes
  • #17,773of 20,598
    Most Researched7
  • #10,852of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedACSM4
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
A novel prognostic two-gene signature for triple negative breast cancer.
PMID: 32404959
Mod Pathol Β· 2020
1.00
2
Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
PMID: 20877624
PLoS One Β· 2010
0.75
3
PMID: 30567295
Int J Mol Sci Β· 2018
0.50
4
ACSM4 polymorphisms are associated with rapid AIDS progression in HIV-infected patients.
PMID: 23982661
J Acquir Immune Defic Syndr Β· 2014
0.25