FTL

Chr 19ADAR

ferritin light chain

Also known as: FTL1, LFTD, NBIA3

NCBI Gene: 2512 ENSG00000087086 UniProt: P02792 OMIM: 134790

The light subunit of ferritin stores iron in a soluble and nontoxic state within cells, with subunit composition affecting iron uptake and release rates across tissues. Mutations cause hyperferritinemia-cataract syndrome, L-ferritin deficiency, and neurodegeneration with brain iron accumulation type 3 through both autosomal dominant and autosomal recessive inheritance patterns. The pathogenic mechanism involves dominant-negative effects where mutant protein disrupts normal ferritin function.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hyperferritinemia-cataract syndromeMIM #600886

L-ferritin deficiency, dominant and recessiveMIM #615604

ADAR

Neurodegeneration with brain iron accumulation 3MIM #606159

UniProtHyperferritinemia with or without cataract

Clinical highlights

Gene-disease validity (ClinGen)

hereditary hyperferritinemia with congenital cataracts · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

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

181

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.95

LOEUF

LOF

Mechanism· G2P

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