CPT1C
Chr 19ADcarnitine palmitoyltransferase 1C
Also known as: CATL1, CPT I-C, CPT1-B, CPT1P, CPTI-B, CPTIC, SPG73
The encoded protein is a palmitoyl thioesterase that regulates AMPA receptor trafficking to the plasma membrane through depalmitoylation and contributes to systemic energy homeostasis and appetite control. Mutations cause spastic paraplegia 73 with autosomal dominant inheritance. This gene is not highly constrained against loss-of-function variants (pLI near zero), suggesting the pathogenic variants may not simply eliminate protein function.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in 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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools