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Ferritin Light Chain (W2401)
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產(chǎn)品編號(hào) W2401
英文名稱 Ferritin Light Chain
中文名稱 鐵蛋白輕鏈抗體
別    名 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.  
理論分子量 20kDa
細(xì)胞定位 細(xì)胞漿 細(xì)胞外基質(zhì) 分泌型蛋白 
性    狀 Liquid
緩 沖 液 0.01M PBS(pH7.4)
保存條件 Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
注意事項(xiàng) This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
產(chǎn)品介紹 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

Entrez Gene: 29292 Rat

Omim: 134790 Human

SwissProt: P02792 Human

SwissProt: P29391 Mouse

SwissProt: P02793 Rat

Unigene: 433670 Human

Unigene: 713706 Human

Unigene: 30357 Mouse

Unigene: 431913 Mouse

Unigene: 1905 Rat 



產(chǎn)品圖片
Measured by its binding ability in a indirect ELISA. Immobilized Human FTL, His Tag (Cat. bs-41189P) at 2 μg/mL (100 μL/well) can bind Anti-Human PSA monoclonal antibody, the minimum detection concentration is 0.05ng/mL
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