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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FTL
ferritin light chain
Chromosome 19 Β· 19q13.33
NCBI Gene: 2512Ensembl: ENSG00000087086.17HGNC: HGNC:3999UniProt: A0A384MDR3
245PubMed Papers
23Diseases
0Drugs
31Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
autolysosomemembraneiron ion bindingprotein bindinghereditary hyperferritinemia with congenital cataractsneuroferritinopathyL-ferritin deficiencygenetic disorder
✦AI Summary

FTL (ferritin light chain) is a critical component of the ferritin complex that serves as the primary cellular iron storage protein, maintaining iron in a soluble, non-toxic form essential for iron homeostasis 1. FTL functions by storing iron in the ferrous form and depositing it as ferric hydroxides after oxidation, with iron release mediated through ferritinophagyβ€”a selective autophagy process where NCOA4 delivers ferritin to lysosomes for degradation 2. The protein plays a crucial role in regulating ferroptosis, an iron-dependent form of cell death characterized by lipid peroxidation. Reduced FTL expression sensitizes cells to ferroptosis by decreasing iron storage capacity, as demonstrated in psoriasis where decreased FTL levels correlate with increased ferroptotic cell death 3. In pathological conditions, FTL deficiency has significant consequencesβ€”in preeclampsia, reduced FTL triggers ferroptosis in trophoblasts, leading to defective uterine spiral artery remodeling 4. Conversely, FTL upregulation can promote cancer progression by enhancing ferroptosis resistance, as seen in colorectal cancer where AMER1 deficiency increases FTL levels and promotes metastasis 5. Clinically, FTL dysregulation is associated with hyperferritinemia, L-ferritin deficiency, and neurodegeneration with brain iron accumulation, highlighting its importance in iron-related disorders.

Sources cited
1
FTL is a component of ferritin complex involved in iron storage and ferritinophagy regulation
PMID: 36647288
2
NCOA4 mediates ferritin delivery to lysosomes for iron release through ferritinophagy
PMID: 39988734
3
Decreased FTL expression in psoriasis correlates with increased ferroptosis susceptibility
PMID: 34707088
4
FTL deficiency in preeclampsia triggers ferroptosis and impairs uterine spiral artery remodeling
PMID: 36446230
5
AMER1 deficiency increases FTL levels, enhancing ferroptosis resistance and promoting cancer metastasis
PMID: 37682704
Disease Associationsβ“˜23
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.79Strong
neuroferritinopathyOpen Targets
0.78Strong
L-ferritin deficiencyOpen Targets
0.62Moderate
genetic disorderOpen Targets
0.41Moderate
movement disorderOpen Targets
0.37Weak
Genetic hyperferritinemia without iron overloadOpen Targets
0.37Weak
essential tremorOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
cancerOpen Targets
0.10Weak
gliomaOpen Targets
0.10Suggestive
glioblastoma multiformeOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
laryngotracheoesophageal cleftOpen Targets
0.07Suggestive
Hypomaturation amelogenesis imperfectaOpen Targets
0.07Suggestive
Hypoplastic amelogenesis imperfectaOpen Targets
0.07Suggestive
amelogenesis imperfectaOpen Targets
0.06Suggestive
tooth agenesisOpen Targets
0.06Suggestive
dentin dysplasia type IOpen Targets
0.06Suggestive
FTH1-related iron overloadOpen Targets
0.06Suggestive
Hyperferritinemia with or without cataractUniProt
L-ferritin deficiencyUniProt
Neurodegeneration with brain iron accumulation 3UniProt
Pathogenic Variants31
NM_000146.4(FTL):c.-168G>CPathogenic
Hereditary hyperferritinemia with congenital cataracts|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy|not provided|FTL-related disorder|See cases
β˜…β˜…β˜†β˜†2025
NM_000146.4(FTL):c.-160A>GPathogenic
Hereditary hyperferritinemia with congenital cataracts|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy|not provided
β˜…β˜…β˜†β˜†2025
NM_000146.4(FTL):c.-150C>APathogenic
not provided|Neuroferritinopathy;Hereditary hyperferritinemia with congenital cataracts
β˜…β˜…β˜†β˜†2025
NM_000146.4(FTL):c.-161C>TPathogenic
Hereditary hyperferritinemia with congenital cataracts|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy|Hereditary hyperferritinemia with congenital cataracts;L-ferritin deficiency;Neuroferritinopathy|not provided
β˜…β˜…β˜†β˜†2025
NM_000146.4(FTL):c.-168G>APathogenic
Hereditary hyperferritinemia with congenital cataracts|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy|not provided|FTL-related disorder
β˜…β˜…β˜†β˜†2025
NM_000146.4(FTL):c.-167C>TPathogenic
Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy|Hereditary hyperferritinemia with congenital cataracts|not provided
β˜…β˜…β˜†β˜†2025
NM_000146.4(FTL):c.-168G>TPathogenic
Hereditary hyperferritinemia with congenital cataracts|not provided|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy|FTL-related disorder
β˜…β˜…β˜†β˜†2025
NM_000146.4(FTL):c.89C>T (p.Thr30Ile)Pathogenic
Hereditary hyperferritinemia with congenital cataracts|Neuroferritinopathy;Hereditary hyperferritinemia with congenital cataracts
β˜…β˜…β˜†β˜†2025β†’ Residue 30
NM_000146.4(FTL):c.-164C>APathogenic
Hereditary hyperferritinemia with congenital cataracts|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β˜…β˜…β˜†β˜†2024
NM_000146.4(FTL):c.-149G>CLikely pathogenic
Hereditary hyperferritinemia with congenital cataracts|Hereditary hyperferritinemia with congenital cataracts;L-ferritin deficiency;Neuroferritinopathy|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β˜…β˜…β˜†β˜†2024
NM_000146.4(FTL):c.485_489dup (p.Glu164fs)Pathogenic
Neuroferritinopathy
β˜…β˜…β˜†β˜†2022β†’ Residue 164
NM_000146.4(FTL):c.-166T>CLikely pathogenic
Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β˜…β˜†β˜†β˜†2025
NM_000146.4(FTL):c.501dup (p.Glu168fs)Pathogenic
Neuroferritinopathy
β˜…β˜†β˜†β˜†2025β†’ Residue 168
NM_000146.4(FTL):c.351delinsTTT (p.Gly118fs)Pathogenic
Neuroferritinopathy
β˜…β˜†β˜†β˜†2025β†’ Residue 118
NM_000146.4(FTL):c.460dup (p.Arg154fs)Pathogenic
Neuroferritinopathy|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 154
NM_000146.4(FTL):c.469_484dup (p.Leu162fs)Likely pathogenic
Neuroferritinopathy|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 162
NM_000146.4(FTL):c.-153G>ALikely pathogenic
Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β˜…β˜†β˜†β˜†2024
NM_000146.4(FTL):c.-151A>GPathogenic
Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β˜…β˜†β˜†β˜†2024
NM_000146.4(FTL):c.172G>T (p.Glu58Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 58
NM_000146.4(FTL):c.460_461delinsCCA (p.Arg154fs)Pathogenic
Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β˜…β˜†β˜†β˜†2022β†’ Residue 154
View on ClinVar β†—
Related Genes
TFRCProtein interaction96%SLC11A2Protein interaction92%HFEProtein interaction92%PANK2Protein interaction91%ACO1Protein interaction85%IREB2Protein interaction85%
Tissue Expression6 tissues
Liver
100%
Lung
72%
Bone Marrow
25%
Ovary
19%
Brain
11%
Heart
9%
Gene Interaction Network
Click a node to explore
FTLTFRCSLC11A2HFEPANK2ACO1IREB2
PROTEIN STRUCTURE
Preparing viewer…
PDB3KXU Β· 1.85 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.55LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.03 [0.69–1.55]
RankingsWhere FTL stands among ~20K protein-coding genes
  • #1,584of 20,598
    Most Researched245 Β· top 10%
  • #1,776of 5,498
    Most Pathogenic Variants31
  • #15,446of 17,882
    Most Constrained (LOEUF)1.55
Genes detectedFTL
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Inhibition of keratinocyte ferroptosis suppresses psoriatic inflammation.
PMID: 34707088
Cell Death Dis Β· 2021
1.00
2
PRMT1 driven PTX3 regulates ferritinophagy in glioma.
PMID: 36647288
Autophagy Β· 2023
0.90
3
Roles of ferroptosis in type 1 diabetes induced spermatogenic dysfunction.
PMID: 38369075
Free Radic Biol Med Β· 2024
0.80
4
Ferritin light chain deficiency-induced ferroptosis is involved in preeclampsia pathophysiology by disturbing uterine spiral artery remodelling.
PMID: 36446230
Redox Biol Β· 2022
0.80
5
AMER1 deficiency promotes the distant metastasis of colorectal cancer by inhibiting SLC7A11- and FTL-mediated ferroptosis.
PMID: 37682704
Cell Rep Β· 2023
0.70