HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HADH
hydroxyacyl-CoA dehydrogenase
Chromosome 4 Β· 4q25
NCBI Gene: 3033Ensembl: ENSG00000138796.18HGNC: HGNC:4799UniProt: A0A0D9SFP2
97PubMed Papers
22Diseases
0Drugs
33Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activityfatty acid beta-oxidationNAD+ bindingmitochondrionHyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency3-hydroxyacyl-CoA dehydrogenase deficiencyhyperinsulinemic hypoglycemia, familial, 4hyperinsulinemic hypoglycemia
✦AI Summary

HADH encodes hydroxyacyl-CoA dehydrogenase, a mitochondrial enzyme that catalyzes the third step of fatty acid beta-oxidation for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10) 1. The enzyme plays a crucial role in fatty acid oxidation (FAO) pathways, which are essential for cellular energy metabolism 1. HADH functions as part of the mitochondrial trifunctional protein complex and participates in steps 2, 3, and 4 of fatty acid beta-oxidation 2. Beyond its metabolic function, HADH has regulatory roles in insulin secretion from pancreatic beta-cells 34. Mutations in HADH cause congenital hyperinsulinism type 4, a rare disorder characterized by inappropriate insulin secretion leading to severe hypoglycemia in neonates and children 563. In clinical studies, HADH mutations account for approximately 16% of diazoxide-responsive hyperinsulinism cases with rare gene mutations 5. The enzyme also plays important roles in cancer metabolism, where abnormal HADH expression affects tumor development and prognosis across multiple cancer types, serving as either a tumor suppressor or promoter depending on tissue context 27. HADH expression is associated with therapeutic response in nasopharyngeal carcinoma and serves as a potential prognostic biomarker 7.

Sources cited
1
HADH catalyzes fatty acid beta-oxidation and is required for intestinal stem cell renewal
PMID: 31759926
2
HADH participates in fatty acid beta-oxidation steps and affects tumor development
PMID: 36239258
3
HADH mutations cause congenital hyperinsulinism
PMID: 29280746
4
HADH mutations account for 16% of rare gene mutations in diazoxide-responsive hyperinsulinism
PMID: 23275527
5
HADH mutations identified in patients with congenital hyperinsulinism
PMID: 23345197
6
HADH is one of 16 genes causing congenital hyperinsulinism
PMID: 34547194
7
HADH expression associated with therapeutic response and prognosis in nasopharyngeal carcinoma
PMID: 40083932
Disease Associationsβ“˜22
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyOpen Targets
0.81Strong
3-hydroxyacyl-CoA dehydrogenase deficiencyOpen Targets
0.79Strong
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.72Strong
hyperinsulinemic hypoglycemiaOpen Targets
0.42Moderate
familial hyperinsulinismOpen Targets
0.33Weak
Abnormality of limbsOpen Targets
0.30Weak
Abnormal brain morphologyOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
monogenic diabetesOpen Targets
0.18Weak
azoospermiaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
spermatogenic failure 84Open Targets
0.06Suggestive
spermatogenic failure 93Open Targets
0.06Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
spermatogenic failure 92Open Targets
0.06Suggestive
spermatogenic failure 94Open Targets
0.06Suggestive
3-alpha-hydroxyacyl-CoA dehydrogenase deficiencyUniProt
Hyperinsulinemic hypoglycemia, familial, 4UniProt
Pathogenic Variants33
NM_005327.7(HADH):c.262-2A>GLikely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Deficiency of 3-hydroxyacyl-CoA dehydrogenase;Hyperinsulinemic hypoglycemia, familial, 4
β˜…β˜…β˜†β˜†2026
NM_005327.7(HADH):c.100G>C (p.Gly34Arg)Likely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Hyperinsulinemic hypoglycemia, familial, 4|Hyperinsulinemic hypoglycemia|Familial hyperinsulinism
β˜…β˜…β˜†β˜†2025β†’ Residue 34
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 4|not provided|Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜…β˜†β˜†2025β†’ Residue 236
NM_005327.7(HADH):c.203dup (p.Ile70fs)Pathogenic
not provided|Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜…β˜†β˜†2025β†’ Residue 70
NM_005327.7(HADH):c.587del (p.Ser196fs)Pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Hyperinsulinemic hypoglycemia, familial, 4
β˜…β˜…β˜†β˜†2024β†’ Residue 196
NM_005327.7(HADH):c.709+2T>CLikely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜…β˜†β˜†2023
NM_005327.7(HADH):c.261+1G>APathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase|Hyperinsulinemic hypoglycemia, familial, 4|Hyperinsulinemic hypoglycemia
β˜…β˜…β˜†β˜†2021
Single allelePathogenic
Hyperinsulinemic hypoglycemia, familial, 4
β˜…β˜†β˜†β˜†2025
NM_005327.7(HADH):c.776_779del (p.Phe259fs)Pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜†β˜†β˜†2025β†’ Residue 259
NM_005327.7(HADH):c.854del (p.Pro285fs)Pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜†β˜†β˜†2025β†’ Residue 285
NM_005327.7(HADH):c.859del (p.His287fs)Pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜†β˜†β˜†2025β†’ Residue 287
NM_005327.7(HADH):c.132+1G>ALikely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase;Hyperinsulinemic hypoglycemia, familial, 4
β˜…β˜†β˜†β˜†2024
NM_005327.7(HADH):c.710-1G>ALikely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜†β˜†β˜†2024
NM_005327.7(HADH):c.271G>T (p.Glu91Ter)Likely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜†β˜†β˜†2024β†’ Residue 91
NM_005327.7(HADH):c.261+2T>ALikely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜†β˜†β˜†2023
NM_005327.7(HADH):c.424dup (p.Thr142fs)Likely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜†β˜†β˜†2023β†’ Residue 142
NM_005327.7(HADH):c.636+2T>CLikely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜†β˜†β˜†2023
NM_005327.7(HADH):c.664_668del (p.Leu222fs)Pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜†β˜†β˜†2023β†’ Residue 222
NM_005327.7(HADH):c.304_307dup (p.Ser103fs)Pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜†β˜†β˜†2023β†’ Residue 103
NM_005327.7(HADH):c.130C>T (p.Gln44Ter)Likely pathogenic
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
β˜…β˜†β˜†β˜†2023β†’ Residue 44
View on ClinVar β†—
Related Genes
ECHDC1Protein interaction98%ACAA2Protein interaction98%CSProtein interaction98%SCP2Protein interaction95%ACAD8Protein interaction94%AUHProtein interaction94%
Tissue Expression6 tissues
Heart
100%
Liver
77%
Ovary
22%
Bone Marrow
17%
Brain
13%
Lung
13%
Gene Interaction Network
Click a node to explore
HADHECHDC1ACAA2CSSCP2ACAD8AUH
PROTEIN STRUCTURE
Preparing viewer…
PDB1F0Y Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.09LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.64 [0.40–1.09]
RankingsWhere HADH stands among ~20K protein-coding genes
  • #4,941of 20,598
    Most Researched97 Β· top quartile
  • #1,724of 5,498
    Most Pathogenic Variants33
  • #11,099of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedHADH
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
PMID: 23275527
J Clin Endocrinol Metab Β· 2013
1.00
2
Congenital Hyperinsulinism: Diagnosis and Treatment Update.
PMID: 29280746
J Clin Res Pediatr Endocrinol Β· 2017
0.90
3
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.80
4
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
PMID: 23345197
Eur J Endocrinol Β· 2013
0.70
5
HNF4 Regulates Fatty Acid Oxidation and Is Required for Renewal of Intestinal Stem Cells in Mice.
PMID: 31759926
Gastroenterology Β· 2020
0.60