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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HACD4
3-hydroxyacyl-CoA dehydratase 4
Chromosome 9 · 9p21.3
NCBI Gene: 401494Ensembl: ENSG00000188921.15HGNC: HGNC:20920UniProt: Q5VWC8
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
fatty acid elongationvery long-chain fatty acid biosynthetic processenzyme bindingvery-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activityShockdiabetes mellitustype 2 diabetes mellitusAbnormal erythrocyte morphology
✦AI Summary

HACD4 (3-hydroxyacyl-CoA dehydratase 4) catalyzes the third step of the long-chain fatty acid elongation cycle in the endoplasmic reticulum, converting 3-hydroxyacyl-CoA intermediates to trans-2,3-enoyl-CoA and enabling the addition of two carbons per cycle to very long-chain fatty acids (VLCFAs) 1. This enzyme participates in producing VLCFAs of varied chain lengths that serve as precursors for membrane lipids and lipid mediators 2. While HACD1 and HACD2 demonstrate redundant activity across saturated and unsaturated fatty acid elongation pathways with HACD2 as the major contributor, HACD4 shows minimal enzymatic activity in these pathways 2. HACD4 has emerging disease relevance: genetic variants in the 9p21.3 region containing HACD4 associate with atherosclerosis susceptibility in males 3, and frameshift mutations occur in microsatellite instability-high colorectal cancers, suggesting potential tumor suppressor functions 4. Additionally, HACD4 expression correlates with contextual fear conditioning behavior in mouse models 5, and recurrent structural alterations affecting HACD4 appear in pediatric B-cell precursor acute lymphoblastic leukemia 6. These findings suggest HACD4 participates in both lipid homeostasis and disease pathophysiology, though functional mechanisms in non-lipid contexts require further investigation.

Sources cited
1
HACD4 is a 3-hydroxyacyl-CoA dehydratase catalyzing the third step in VLCFA synthesis
PMID: 18554506
2
HACD4 shows minimal enzymatic activity in fatty acid elongation compared to HACD1/HACD2
PMID: 28784662
3
HACD4 haplotype variants associate with atherosclerosis and carotid plaque in males
PMID: 29031776
4
HACD4 frameshift mutations occur in microsatellite instability-high colorectal cancers
PMID: 28803425
5
HACD4 expression correlates with contextual fear conditioning behavior in mice
PMID: 37805118
6
Recurrent structural alterations at 9p21.3 (FOCAD/HACD4) detected in pediatric B-cell precursor ALL
PMID: 37469802
Disease Associationsⓘ20
ShockOpen Targets
0.23Weak
diabetes mellitusOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
Abnormal erythrocyte morphologyOpen Targets
0.06Suggestive
splenic diseaseOpen Targets
0.06Suggestive
thyroiditisOpen Targets
0.04Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.03Suggestive
lung carcinomaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
pituitary cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
asthmaOpen Targets
0.01Suggestive
Acute hepatic failureOpen Targets
0.01Suggestive
tuberculosisOpen Targets
0.01Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.01Suggestive
mucous membrane pemphigoidOpen Targets
0.01Suggestive
squamous cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FADS1Protein interaction98%SCDProtein interaction98%HSD17B12Protein interaction98%SCD5Protein interaction98%HACD1Protein interaction92%HACD2Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
48%
Ovary
25%
Heart
10%
Brain
10%
Liver
4%
Gene Interaction Network
Click a node to explore
HACD4FADS1SCDHSD17B12SCD5HACD1HACD2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5VWC8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.78LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.20 [0.80–1.78]
RankingsWhere HACD4 stands among ~20K protein-coding genes
  • #17,344of 20,598
    Most Researched9
  • #16,473of 17,882
    Most Constrained (LOEUF)1.78
Genes detectedHACD4
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood
PMID: 37469802
Hemasphere · 2023
1.00
2
Behavioral and genetic architecture of fear conditioning and related phenotypes.
PMID: 37805118
Neurobiol Learn Mem · 2023
0.89
3
The HACD4 haplotype as a risk factor for atherosclerosis in males.
PMID: 29031776
Gene · 2018
0.78
4
Inactivating Frameshift Mutations of HACD4 and TCP10L Tumor Suppressor Genes in Colorectal and Gastric Cancers.
PMID: 29532408
Pathol Oncol Res · 2020
0.67
5
Frameshift Mutations in Repeat Sequences of ANK3, HACD4, TCP10L, TP53BP1, MFN1, LCMT2, RNMT, TRMT6, METTL8 and METTL16 Genes in Colon Cancers.
PMID: 28803425
Pathol Oncol Res · 2018
0.56