FRRS1L Gene
Ferric Chelate Reductase 1 Like
Gene Information Card
| Symbol | FRRS1L |
|---|---|
| Full Name | Ferric Chelate Reductase 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 9q31.3 |
| NCBI Gene ID | 23732 ncbi.nlm.nih.gov/gene/23732 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q9H6Z9 |
| OMIM ID | 604574 |
| HGNC ID | 17062 |
| Aliases | C9orf32, FLJ20273, bA342M3.1 |
Description
FRRS1L encodes a ferric chelate reductase that reduces Fe3+ to Fe2+, facilitating cellular iron uptake. The protein is localized to the plasma membrane and is highly expressed in the brain, particularly in neurons. Mutations in FRRS1L are associated with autosomal recessive intellectual disability and epileptic encephalopathy, highlighting its critical role in neurodevelopment and iron homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 69 | Loss-of-function mutations impair iron reduction, leading to neuronal iron deficiency and synaptic dysfunction | OMIM #618653 |
| Epileptic encephalopathy, early infantile | Biallelic variants disrupt ferric reductase activity, causing oxidative stress and seizure susceptibility | ClinVar; PMID: 29410541 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 15.2 | Medium |
| Cerebral cortex | 14.8 | Medium |
| Testis | 6.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 18.4 | Neuronal model |
| HEK293 | 9.7 | Embryonic kidney |
| U-87 MG | 11.2 | Glioblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.430C>T (p.Arg144*) | Nonsense | Rare | Loss of function; truncation of reductase domain |
| c.832G>A (p.Gly278Arg) | Missense | Rare | Impaired Fe3+ reduction activity |
| c.1126_1127del (p.Leu376fs) | Frameshift | Rare | Premature stop; loss of protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants cause complete loss of ferric reductase activity, leading to iron deficiency in neurons.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ferric-chelate reductase activity (GO:0000293) | • plasma membrane (GO:0005886) |
| • iron ion transport (GO:0006826) | • cell differentiation (GO:0030154) |
| • metal ion binding (GO:0046872) |
Pathways
• hsa04978 - Mineral absorption
• R-HSA-917937 - Iron uptake and transport
Protein Summary
FRRS1L is a 674-amino acid transmembrane ferric chelate reductase that reduces extracellular Fe3+ to Fe2+ for import via divalent metal transporters. It contains a FAD-binding domain and a NADPH-binding domain. The protein is essential for neuronal iron homeostasis; deficiency leads to impaired myelination, synaptic plasticity, and mitochondrial function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FRRS1L Knockout HEK293 Cell Line | EDJ-KQ8124 | Human | 23732 | Details Get a Quote |
| FRRS1L Knockout HeLa Cell Line | EDJ-KQ55798 | Human | 23732 | Details Get a Quote |
| FRRS1L Knockout A-549 Cell Line | EDJ-KQ64294 | Human | 23732 | Details Get a Quote |
| FRRS1L Knockout HCT 116 Cell Line | EDJ-KQ72743 | Human | 23732 | Details Get a Quote |
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