Puneet Varma

Ferritin light chain

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Species  Human
Entrez  2512
Human  Mouse
Ensembl  ENSG00000087086
Ferritin light chain
Aliases  FTL, LFTD, NBIA3, ferritin, light polypeptide, ferritin light chain
External IDs  MGI: 5434102 HomoloGene: 79330 GeneCards: FTL

Ferritin light chain is a protein that in humans is encoded by the FTL gene.

Contents

It is abnormally expressed in fetuses of both IVF and ICSI, which may contribute to the increase risk of birth defects in these ART.

Function

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. This gene has multiple pseudogenes.

Although ferritin light chain has no ferroxidase activity, the light chain may be responsible for the electron transfer across the ferritin protein cage.

Clinical significance

Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome.

Mutations of the FTL gene cause the rare adult-onset basal ganglia disease also known as neuroferritinopathy).

Interactions

Ferritin light chain has been shown to interact with FTH1.

References

Ferritin light chain Wikipedia


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