免疫原
Purified recombinant full length of human ferritin light chain protein expressed in E.coli.
特异性
This antibody detects recombinant ferritin proteins.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogen.
其他名称
Ferritin L chain ; Ferritin L subunit ; Ferritin light chain ; Ferritin light polypeptide ; Ferritin light polypeptide like 3 ; FRIL ; FRIL_HUMAN ; FTL ; L apoferritin ; LFTD ; MGC71996 ; NBIA 3 ; NBIA3.
背景
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],
功能
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.,disease:Defects in FTL are the cause of neuroferritinopathy [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.,function:Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis.,function:Stores i
