LRRFIP1

Chr 2

LRR binding FLII interacting protein 1

Also known as: FLAP-1, FLAP1, FLIIAP1, GCF-2, GCF2, HUFI-1, TRIP

NCBI Gene: 9208 ENSG00000124831 UniProt: Q32MZ4

The LRRFIP1 protein functions as a transcriptional repressor that binds to GC-rich DNA sequences and regulates expression of genes including TNF, EGFR, and PDGFA, while also positively regulating Toll-like receptor signaling pathways. Mutations in LRRFIP1 cause autosomal recessive neurodevelopmental disorder with seizures and brain atrophy, typically presenting in early childhood. The gene shows tolerance to loss-of-function variants (pLI 0.02, LOEUF 0.68), consistent with the recessive inheritance pattern observed clinically.

ResearchSummary from RefSeq, UniProt

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in negative regulation of transcription by RNA polymerase II. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.68

LOEUF

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Mechanism

Some data sources returned errors (1)

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