Gene
AMACR
alpha-methylacyl-CoA racemase
- HGNC 451(opens in a new tab)
- Ensembl gene ENSG00000242110(opens in a new tab)
- NCBI Gene 23600(opens in a new tab)
Summary
- Cytogenetic location
- 5p13.2
- Coordinates
- Chromosome 5: 33,986,165–34,008,050 (GRCh38)
- Exons
- 5 exons across 21.9 kb
- Protein
- 382 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- RACE, P504S
- MANE Select transcript
- ENST00000335606.11NM_014324.6
- 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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Peroxisomal Enzyme Disorders & Refsum Disease
- Alpha-Methylacyl-CoA Racemase DeficiencyAutosomal recessive
Caused by variants in AMACR, which can cause adult-onset nerve damage, vision problems and seizures, or a bile acid synthesis defect in infancy.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows a diet low in phytanic and pristanic acid, which may slow progression.
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 AMACR 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 4.1 kb of the gene's 21.9 kb; 1,149 of those bases code for the protein.
How a genome test reads AMACR
1
position in AMACR 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 21.9 kb of AMACR, introns included, not only the 4.1 kb of exons.
Traits linked to AMACR
The Human Phenotype Ontology lists these as features of the rare conditions AMACR can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Decreased circulating calcifediol concentration
- Decreased serum bile acid concentration
- Elevated circulating aspartate aminotransferase concentration
- Elevated levels of phytanic acid
- High blood bilirubin levels
- Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts
- Vitamin E deficiency
- Abnormal circulating enzyme concentration or activity
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.). AMACR gene: alpha-methylacyl-CoA racemase. Retrieved 17 October 2026, from https://dantelabs.com/genes/amacr
Dante Labs. AMACR gene: alpha-methylacyl-CoA racemase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/amacr
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