FTL; LFTD; NBIA3; ferritin; light polypeptide; ferritin light chain

For Research Use Only. Not for use in diagnostic procedures.

Human Liver

>= 95% (SDS-PAGE)

Clear, Reddish-Brown Solution; Solution in tris buffered sodium chloride, pH 7.5, with bromo-nitro-dioxane and methylisothiazolone as preservatives.

Store at 2-8 degree C.

Small volumes of FTL native protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Human Ferritin is a globular protein found mainly in the liver, which can store about 4,500 iron ions in a hollow shell made of 24 identical subunits. Inside the human ferritin shell, iron ions form crystallites together with phosphate and hydroxide ions. Human Serum ferritin levels are measured in patients as part of the iron studies workup for anemia and for restless leg syndrome. Human ferritin levels have a direct correlation with the total amount of iron stored in the body. Human Ferritin levels are also indicative of the erosion of iron stores during pregnancy.

ferritin light chain

ferritin light chain

Ferritin light chain

Ferritin L subunit??[Similar Products]

FRIL_HUMAN

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 *****-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: ferritin complex; membrane; cytosol

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

Biological Process: receptor-mediated endocytosis; iron ion homeostasis; cellular iron ion homeostasis; post-Golgi vesicle-mediated transport; transmembrane transport; iron ion transport

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

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