MEFV

Chr 16ADAR

MEFV innate immunity regulator, pyrin

Also known as: FMF, MEF, PAAND, TRIM20

NCBI Gene: 4210 ENSG00000103313 UniProt: O15553 OMIM: 608107

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Familial Mediterranean fever, ADMIM #134610

Familial Mediterranean fever, ARMIM #249100

Neutrophilic dermatosis, acute febrileMIM #608068

UniProtPyrin-associated autoinflammatory disease

Clinical highlights

Gene-disease validity (ClinGen)

familial Mediterranean fever · SDDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

211

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.13

LOEUF

LOF

Mechanism· G2P