CIDEC
Chr 3ARcell death inducing DFFA like effector c
Also known as: CIDE-3, CIDE3, FPLD5, FSP27
The CIDEC protein is a lipid transferase expressed in white adipose tissue that promotes lipid droplet fusion and enlargement, restricting lipolysis and favoring lipid storage. Mutations cause familial partial lipodystrophy type 5, inherited in an autosomal recessive pattern. The gene shows low constraint to loss-of-function variation (pLI = 0.009, LOEUF = 0.943), consistent with recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
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.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CIDEC · 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
External Resources
Links to major genomics databases and tools