protein

NATIVE HUMAN FERRITIN

MBS230135

1 mg

315 USD

Purified Protein

NATIVE HUMAN FERRITIN

FERRITIN

ferritin light chain; Ferritin light chain; ferritin light chain; ferritin L subunit; ferritin L-chain; ferritin light polypeptide-like 3; ferritin, light polypeptide

FTL; FTL; LFTD; NBIA3; Ferritin L subunit

FRIL_HUMAN

175

SDS PAGE: >96%

Purified. Purified protein from human liver - liquid

Approximate Protein Concentration: 4.0 mg/ml

Store at 4 degree C. DO NOT FREEZE. This product should be stored undiluted. Should this product contain a precipitate we recommend microcentrifugation before use. Shelf Life: 18 months from date of despatch.

Flow cytometry (FC/FACS)

Preparation: Multiple purification steps

Buffer Solution: TRIS buffered sodium chloride pH 7-8. Target Species: Human

20149498

NP_000137.2

NM_000146.3

20,020 Da

Binding And Uptake Of Ligands By Scavenger Receptors Pathway (771599); Clathrin Derived Vesicle Budding Pathway (119545); Golgi Associated Vesicle Biogenesis Pathway (119546); Integrated Pancreatic Cancer Pathway (711360); Iron Uptake And Transport Pathway (187191); Membrane Trafficking Pathway (106160); Mineral Absorption Pathway (212237); Mineral Absorption Pathway (212220); Scavenging By Class A Receptors Pathway (833814); Transmembrane Transport Of Small Molecules Pathway (106572)

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: 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; iron ion transport; transmembrane transport. Disease: Hyperferritinemia With Or Without Cataract; L-ferritin Deficiency; Neurodegeneration With Brain Iron Accumulation 3

1 mg

315 USD