MEFV
Chr 16ADARMEFV innate immunity regulator, pyrin
Also known as: FMF, MEF, PAAND, TRIM20
The protein pyrin regulates innate immunity and inflammatory responses by serving as an inflammasome component and autophagy receptor that controls IL1B and IL18 production. Mutations cause familial Mediterranean fever, a hereditary periodic fever syndrome, and acute febrile neutrophilic dermatosis, with both autosomal dominant and autosomal recessive inheritance patterns described. The gene shows low constraint against loss-of-function variants (LOEUF 1.129), suggesting tolerance to such changes.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
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
MEFV · 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
Can Gluten/Wheat or Other Foods be Responsible for FMF Attacks
RECRUITINGCharacterization of a Functional Test for Mediterranean Family Fever Screening - 2
RECRUITINGHealth-related Quality of Life, Electrocardiographic and Holter Findings in Children With Familial Mediterranean Fever
ACTIVE NOT RECRUITINGFamilial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
RECRUITINGExternal Resources
Links to major genomics databases and tools