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Product Name Ferritin Light Chain Chinese Name 铁蛋白轻链抗体 Alias Ferritin light polypeptide; Ferritin L chain; Ferritin L subunit; Ferritin light chain; Ferritin light polypeptide like 3; FRIL; FRIL_HUMAN; FTL; L apoferritin; MGC71996; NBIA 3; NBIA3. Research Area Cardiovascular Cell biology Neurobiology Signal transduction Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Dog, Pig, Cow, Horse, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 19-21kDa Cellular localization cytoplasmic Extracellular matrix Secretory protein Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human Ferritin Light Chain: 101-175/175 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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].
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.
Subunit:
Oligomer of 24 subunits. There are two types of subunits: L (light) chain and H (heavy) chain. The major chain can be light or heavy, depending on the species and tissue type. The functional molecule forms a roughly spherical shell with a diameter of 12 nm and contains a central cavity into which the insoluble mineral iron core is deposited. Iron enters the spherical protein shell through pores that are formed between subunits. Mutations leading to truncation or the addition of extra residues at the C-terminus interfere with normal pore formation and with iron accumulation.
DISEASE:
Defects in FTL are the cause of hereditary hyperferritinemia-cataract syndrome (HHCS) [MIM:600886]. 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) [MIM:606159]; 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.
Similarity:
Belongs to the ferritin family.
Contains 1 ferritin-like diiron domain.
SWISS:
P02792
Gene ID:
2512
Database links:Entrez Gene: 2512 Human
Entrez Gene: 14325 Mouse
Omim: 134790 Human
SwissProt: P02792 Human
SwissProt: P29391 Mouse
Unigene: 433670 Human
Unigene: 713706 Human
Unigene: 30357 Mouse
Unigene: 431913 Mouse
Unigene: 1905 Rat
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