CPT1C

Chr 19

carnitine palmitoyltransferase 1C

Also known as: CATL1, CPT I-C, CPT1-B, CPT1P, CPTI-B, CPTIC, SPG73

NCBI Gene: 126129ENSG00000169169UniProt: Q8TCG5

This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic paraplegia 73, autosomal dominant

Clinical highlights

Gene-disease validity (ClinGen)
hereditary spastic paraplegia · ADLimitednot for standalone diagnostic reporting
0
Active trials
26
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.69
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — CPT1C
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.69LOEUF
pLI 0.000
Z-score 3.20
OE 0.49 (0.35–0.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.31Z-score
OE missense 0.83 (0.77–0.91)
419 obs / 501.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.49 (0.35–0.69)
0≤0.351.4
Missense OE?0.83 (0.77–0.91)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 22 / 45.2Missense obs/exp: 419 / 501.9Syn Z: -0.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CPT1C · 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