Gene
ACADM
acyl-CoA dehydrogenase medium chain
- HGNC 89(opens in a new tab)
- Ensembl gene ENSG00000117054(opens in a new tab)
- NCBI Gene 34(opens in a new tab)
Summary
- Cytogenetic location
- 1p31.1
- Coordinates
- Chromosome 1: 75,724,709–75,763,679 (GRCh38)
- Exons
- 12 exons across 39 kb
- Protein
- 421 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- MCAD, MCADH, ACAD1
- MANE Select transcript
- ENST00000370841.9NM_000016.6
- 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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Fatty Acid Oxidation & Carnitine Cycle Disorders
- 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.
Inheritance
- 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 ACADM 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 2.3 kb of the gene's 39 kb; 1,266 of those bases code for the protein.
How a genome test reads ACADM
314
positions in ACADM 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 39 kb of ACADM, introns included, not only the 2.3 kb of exons.
Traits linked to ACADM
The Human Phenotype Ontology lists these as features of the rare conditions ACADM can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Elevated urinary 7-hydroxyoctanoic acid level
- Metabolic acidosis
- Reduced tissue medium-chain acyl-CoA dehydrogenase activity
- Elevated urinary dicarboxylic acid level
- High blood ammonia levels
- Abnormal circulating lactate dehydrogenase concentration
- Elevated blood creatine phosphokinase
- Elevated urinary 3-hydroxybutyric acid
Abnormality of the nervous system
- Diminished deep tendon reflex
- Ataxia
- Coma
- Delayed speech and language development
- Febrile seizure (within the age range of 3 months to 6 years)
- Grand mal seizures
- Lethargy
- Loss of consciousness
Show 2 more traits
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.). ACADM gene: acyl-CoA dehydrogenase medium chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/acadm
Dante Labs. ACADM gene: acyl-CoA dehydrogenase medium chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/acadm
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