FRRS1L

Chr 9AR

ferric chelate reductase 1 like

Also known as: C9orf4, CG-6, CG6, DEE37, EIEE37

NCBI Gene: 23732 ENSG00000260230 UniProt: Q9P0K9 OMIM: 604574

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 37MIM #616981

Clinical highlights

Gene-disease validity (ClinGen)

genetic developmental and epileptic encephalopathy · ARDefinitivesufficient 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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.09

LOEUF

LOF

Mechanism· G2P