Gene
HADHA
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
- HGNC 4801(opens in a new tab)
- Ensembl gene ENSG00000084754(opens in a new tab)
- NCBI Gene 3030(opens in a new tab)
Summary
- Cytogenetic location
- 2p23.3
- Coordinates
- Chromosome 2: 26,190,635–26,244,632 (GRCh38)
- Exons
- 20 exons across 54 kb
- Protein
- 763 amino acids
- Inheritance
- Autosomal dominant Autosomal recessive
- Also known as
- GBP, LCEH, LCHAD, MTPA
- MANE Select transcript
- ENST00000380649.8NM_000182.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Fatty Acid Oxidation & Carnitine Cycle Disorders
- Mitochondrial Trifunctional Protein DeficiencyAutosomal recessive
Caused by variants in HADHA or HADHB, which can cause low blood sugar, heart and liver problems, muscle breakdown, and later nerve damage.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows a low long-chain-fat diet with medium-chain fat supplements and an emergency plan for illness.
- Disorders of Fatty Acid Oxidation and KetogenesisAutosomal recessive
A group of enzyme and transporter defects, including MCAD, VLCAD, LCHAD, SCAD and HADH deficiency, primary carnitine deficiency and carnitine-acylcarnitine translocase deficiency, that can cause low blood sugar, muscle breakdown, heart and liver problems during periods of fasting or illness.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows avoidance of prolonged fasting, an emergency plan for illness and, where relevant, carnitine or dietary fat modification, which can prevent life-threatening episodes.
Broader groupings
Hypertrophic Cardiomyopathy
- Autosomal dominant
One of 62 genes linked to it
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How HADHA is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.9 kb of the gene's 54 kb; 2,292 of those bases code for the protein.
How a genome test reads HADHA
222
positions in HADHA where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 54 kb of HADHA, introns included, not only the 2.9 kb of exons.
Traits linked to HADHA
The Human Phenotype Ontology lists these as features of the rare conditions HADHA can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts
- Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts
- Elevated circulating fatty acylcarnitine concentration
- Elevated blood creatine phosphokinase
- Hypoketotic hypoglycemia
- Low blood sugar
- Diffuse hepatic steatosis
- Elevated circulating aspartate aminotransferase concentration
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). HADHA gene: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha. Retrieved 16 October 2026, from https://dantelabs.com/genes/hadha
Dante Labs. HADHA gene: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hadha
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