FRRS1L
Chr 9ARferric chelate reductase 1 like
Also known as: C9orf4, CG-6, CG6, DEE37, EIEE37
The protein is a component of the outer core of AMPA receptors in the brain that modulates glutamate signaling. Biallelic mutations cause developmental and epileptic encephalopathy 37, inherited in an autosomal recessive pattern. The pathogenic mechanism involves disrupted glutamate receptor function leading to abnormal neuronal excitability and seizures.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FRRS1L · 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