Ferritin, Liver Protein | FTL protein

Ferritin, Liver, Human

Cat. Num. AAA634952

• Gene Names: FTL; NBIA3
• Applications: ELISA
• Purity: Purified; Purified. 96% by SDS-PAGE.
• Synonyms: Ferritin; Liver; Human; FTL protein

• Host: Ferritin, from human liver.
• Purity/Purification: Purified; Purified. 96% by SDS-PAGE.
• Form/Format: Supplied as a liquid in buffered sodium chloride, pH 7.5. Contains Bromo-nitro-dioxane and methylisothiazolone as preservatives.

• Applicable Applications for FTL protein: ELISA (EL/EIA)
• Application Notes: Suitable for use in ELISA
• Preparation and Storage: May be stored at 4 degree C. For long-term storage, aliquot and store at 4 degree C. Do not freeze. Aliquots are stable for at least 6 months. For maximum recovery of product, centrifuge the original vial prior to removing the cap. Further dilutions can be made in assay buffer.

Related Product Information for FTL protein

Ferritin is a ubiquitous and highly conserved protein which plays a major role in iron homeostasis by sequestering and storing iron in a non-toxic and soluble form. It forms a holoenzyme of ~450kD, consisting of 24 subunits of two types, H (heavy; 21kD) and L (light; 19kD), and is capable of storing up to 4,500 atoms of ferric iron. Depending on the tissue type and physiological status of the cell, the ratio of H to L subunits in ferritin can vary widely. Ferritin is found in the liver, spleen, kidney and heart, with smaller amounts being found in blood. Serum ferritin levels serve as an indicator of the amount of iron stored in the body. Serum ferritin is the most sensitive test for anaemia, and is also used as a marker for restless leg syndrome, hemochromatosis and porphyria. As ferritin is an acute-phase reactant, it is often elevated during infection. Defects in ferritin proteins are associated with several neurodegenerative diseases.

Product Categories/Family for FTL protein

Molecular Biology; MB-Ferritin

NCBI and Uniprot Product Information

• NCBI GI #: 20149498
• NCBI GeneID: 2512
• NCBI Accession #: NP_000137.2
• NCBI GenBank Nucleotide #: NM_000146.3
• UniProt Accession #: P02792; Q6IBT7; Q7Z2W1; Q86WI9; Q8WU07; Q96AU9; Q96CU0; Q9BTZ8; B2R4B9
• Molecular Weight: 20,020 Da
• NCBI Official Full Name: ferritin light chain
• NCBI Official Synonym Full Names: ferritin, light polypeptide
• NCBI Official Symbol: FTL
• NCBI Official Synonym Symbols: NBIA3
• NCBI Protein Information: ferritin light chain; ferritin L-chain; ferritin L subunit; ferritin light polypeptide-like 3
• UniProt Protein Name: Ferritin light chain
• Protein Family: Ferritin
• UniProt Gene Name: FTL
• UniProt Synonym Gene Names: Ferritin L subunit
• UniProt Entry Name: FRIL_HUMAN

NCBI Description

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]

Uniprot Description

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; transmembrane transport; iron ion transport

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