FTL
Function
Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). Delivery to lysosomes by the cargo receptor NCOA4 for autophagic degradation and release or iron (PubMed:24695223).
Involvement in disease
Hyperferritinemia with or without cataract
HRFTC
An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Neurodegeneration with brain iron accumulation 3
NBIA3
A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels.
None
The disease is caused by variants affecting the gene represented in this entry.
L-ferritin deficiency
LFTD
A condition characterized by low levels of ferritin in serum and tissues in the absence of other hematological symptoms. Seizures and mild neuropsychologic impairment may manifest in individuals with complete ferritin deficiency.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ferritin family.
Cellular localization
- Cytoplasmic vesicle
- Autophagosome
- Cytoplasm
- Autolysosome
Alternative names
Ferritin light chain, Ferritin L subunit, FTL