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FTL - ferritin light chain
- Synonym(s) : ferritin L-chain, ferritin light polypeptide-like 3, ferritin L subunit, L apoferritin, MGC71996, NBIA3, neurodegeneration with brain iron accumulation 3
- Previous symbols and names : ferritin, light polypeptide
- Type : gene with protein product
- Chromosomal location : 19q13.33
- OMIM: 134790
- HGNC: 3999
- UniProtKB: P02792
- Genatlas: FTL
- GenCC: FTL
- Ensembl: ENSG00000087086
- IUPHAR-DB: -
- Reactome: P02792
- LOVD: FTL
Diseases list
- Disease-causing germline mutation(s) in Genetic hyperferritinemia without iron overload
ORPHA:254704 
- Disease-causing germline mutation(s) in Neuroferritinopathy
ORPHA:157846 - Disease-causing germline mutation(s) (loss of function) in L-ferritin deficiency
ORPHA:440731 - Disease-causing germline mutation(s) (gain of function) in Hereditary hyperferritinemia-cataract syndrome
ORPHA:163 - Disease-causing germline mutation(s) (gain of function) in L-ferritin deficiency
ORPHA:440731
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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