FTL Antibody – Mouse Monoclonal

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]

FTL: 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. Defects in FTL are the cause of hereditary hyperferritinemia-cataract syndrome (HHCS). It is an autosomal dominant disease characterized by early-onset bilateral cataract. Affected patients have elevated level of circulating ferritin. HHCS is caused by mutations in the iron responsive element (IRE) of the FTL gene. Defects in FTL are the cause of neurodegeneration with brain iron accumulation type 3 (NBIA3); also known as adult-onset basal ganglia disease. It is a movement disorder with heterogeneous presentations starting in the fourth to sixth decade. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels. Belongs to the ferritin family.

Protein type: Oxidoreductase

Chromosomal Location of Human Ortholog: 19q13.33

Cellular Component: cytoplasm; cytosol; ferritin complex; membrane

Molecular Function: identical protein binding; iron ion binding; protein binding

Biological Process: cellular iron ion homeostasis; intracellular sequestering of iron ion; iron ion homeostasis

Disease: Hyperferritinemia With Or Without Cataract; L-ferritin Deficiency; Neurodegeneration With Brain Iron Accumulation 3