Gene
CPT1A
carnitine palmitoyltransferase 1A
- HGNC 2328(opens in a new tab)
- Ensembl gene ENSG00000110090(opens in a new tab)
- NCBI Gene 1374(opens in a new tab)
Summary
- Cytogenetic location
- 11q13.3
- Coordinates
- Chromosome 11: 68,754,883–68,841,916 (GRCh38)
- Exons
- 19 exons across 87 kb
- Protein
- 773 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- CPT1-L, L-CPT1
- Previous symbols
- CPT1
- MANE Select transcript
- ENST00000265641.10NM_001876.4
- 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
- Carnitine Palmitoyltransferase 1A DeficiencyAutosomal recessive
Caused by variants in CPT1A, which can cause episodes of low blood sugar and liver dysfunction in young children, typically triggered by fasting or illness.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows avoidance of fasting and prompt treatment with glucose during illness.
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 CPT1A 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 5.2 kb of the gene's 87 kb; 2,322 of those bases code for the protein.
How a genome test reads CPT1A
173
positions in CPT1A 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 87 kb of CPT1A, introns included, not only the 5.2 kb of exons.
Traits linked to CPT1A
The Human Phenotype Ontology lists these as features of the rare conditions CPT1A can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Decreased reflex response
- Lethargy
- Motor delay
- Recurrent encephalopathy
- Abnormal speech pattern
- Behavioral abnormality
- Diminished deep tendon reflex
- Epilepsy
Show 3 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.). CPT1A gene: carnitine palmitoyltransferase 1A. Retrieved 17 October 2026, from https://dantelabs.com/genes/cpt1a
Dante Labs. CPT1A gene: carnitine palmitoyltransferase 1A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cpt1a
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