FTL Gene - Ferritin Light Chain
Iron storage and homeostasis gene
Gene Information Card
| Symbol | FTL |
|---|---|
| Full Name | Ferritin Light Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 2512 ncbi.nlm.nih.gov/gene/2512 |
| Ensembl ID | ENSG00000087086 |
| UniProt ID | P02792 |
| OMIM ID | 134790 |
| HGNC ID | 3999 |
| Aliases | L-ferritin, ferritin L subunit |
Description
The FTL gene encodes the light subunit of ferritin, a major iron storage protein. Ferritin is composed of heavy (FTH1) and light (FTL) chains that assemble into a nanocage to sequester and detoxify intracellular iron. FTL is critical for iron homeostasis, and mutations cause neurodegenerative and iron overload disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroferritinopathy | FTL mutations (e.g., p.Arg96Cys) disrupt ferritin assembly, leading to iron accumulation in the basal ganglia and neurodegeneration. | OMIM #606159 |
| Hyperferritinemia-cataract syndrome | Mutations in the iron-responsive element (IRE) of FTL mRNA cause constitutive ferritin translation, resulting in elevated serum ferritin and early-onset cataracts. | OMIM #600886 |
| Hereditary hyperferritinemia | Dominant FTL mutations lead to increased ferritin levels without iron overload, often benign. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 112.2 | High |
| Spleen | 98.5 | High |
| Bone marrow | 85.3 | High |
| Brain | 12.1 | Medium |
| Heart | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 145.6 | Hepatocyte model |
| K562 | 92.3 | Erythroleukemia |
| SH-SY5Y | 15.2 | Neuroblastoma |
| HeLa | 78.9 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.286C>T (p.Arg96Cys) | Missense | Rare | Dominant negative; causes neuroferritinopathy |
| c.−168G>C | 5' UTR IRE mutation | Rare | Gain of function; hyperferritinemia-cataract syndrome |
| c.286C>A (p.Arg96Ser) | Missense | Rare | Dominant negative; neuroferritinopathy |
Mutation functional classification
Loss of Function (LOF)
Not typical; FTL loss is embryonic lethal in mice.
Gain of Function (GOF)
IRE mutations increase FTL translation, causing hyperferritinemia.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg96Cys) disrupt ferritin cage assembly, leading to iron deposition.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006879 - intracellular iron ion homeostasis | • GO:0008199 - ferric iron binding |
| • GO:0004322 - ferroxidase activity | • GO:0005737 - cytoplasm |
| • GO:0005829 - cytosol |
Pathways
• Iron uptake and transport (Reactome: R-HSA-917937)
• Ferroptosis (KEGG: hsa04216)
Protein Summary
Ferritin light chain (UniProt P02792) is a 175-amino acid protein that forms a spherical nanocage with ferritin heavy chain. It lacks ferroxidase activity but contributes to iron nucleation and storage. The protein is highly expressed in liver, spleen, and bone marrow, and its serum level is a clinical marker for iron status.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FTL Knockout HEK293 Cell Line | EDJ-KQ4650 | Human | 2512 | Details Get a Quote |
| FTL Knockout HCT 116 Cell Line | EDJ-KQ26099 | Human | 2512 | Details Get a Quote |
| FTL Knockout A-549 Cell Line | EDJ-KQ27339 | Human | 2512 | Details Get a Quote |
| FTL Knockout HeLa Cell Line | EDJ-KQ27340 | Human | 2512 | Details Get a Quote |
| FTL Knockout HAP1 Cell Line | EDC08031 | Human | 2512 | Details Get a Quote |
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