Gene Symbol | FTL |
Entrez Gene ID | 2512 |
Full Name | ferritin light chain |
Synonyms | LFTD,NBIA3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Hyperferritinemia-cataract syndrome, 600886 (3); Neurodegeneration with brain iron accumulation 3, 606159 (3); L-ferritin deficiency, dominant and recessive, 615604 (3) |