CPT2

Chr 1ADAR

carnitine palmitoyltransferase 2

Also known as: CPT1, CPTASE, IIAE4

NCBI Gene: 1376ENSG00000157184UniProt: P23786OMIM: 600650

The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Encephalopathy, acute, infection-induced, 4, susceptibility to}MIM #614212
ADAR
CPT II deficiency, infantileMIM #600649
AR
CPT II deficiency, lethal neonatalMIM #608836
AR
CPT II deficiency, myopathic, stress-inducedMIM #255110
ADAR
UniProtCarnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced
UniProtCarnitine palmitoyltransferase 2 deficiency, infantile
UniProtCarnitine palmitoyltransferase 2 deficiency, lethal neonatal

Clinical highlights

Gene-disease validity (ClinGen)
carnitine palmitoyltransferase II deficiency · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
125
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.17
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — CPT2
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.17LOEUF
pLI 0.000
Z-score 0.95
OE 0.78 (0.53–1.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.40Z-score
OE missense 0.94 (0.86–1.03)
337 obs / 358.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.53–1.17)
0≤0.351.4
Missense OE?0.94 (0.86–1.03)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 17 / 21.8Missense obs/exp: 337 / 358.1Syn Z: -1.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CPT2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients