NP_000137.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
ferritin light chain
NCBI Official Synonym Full Names
ferritin, light polypeptide
NCBI Official Synonym Symbols
NCBI Protein Information
ferritin light chain
UniProt Protein Name
Ferritin light chain
UniProt Synonym Gene Names
UniProt Entry Name
FRIL_HUMAN
NCBI Summary for FTL
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 Comments for FTL
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: cytosol; ferritin complex; membrane
Molecular Function: ferric iron binding; identical protein binding; iron ion binding; protein binding
Biological Process: cellular iron ion homeostasis; iron ion homeostasis; iron ion transport; post-Golgi vesicle-mediated transport; receptor-mediated endocytosis; transmembrane transport
Disease: Hyperferritinemia With Or Without Cataract; L-ferritin Deficiency; Neurodegeneration With Brain Iron Accumulation 3
Product References and Citations for FTL recombinant protein
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.Kannengiesser C., Jouanolle A.M., Hetet G., Mosser A., Muzeau F., Henry D., Bardou-Jacquet E., Mornet M., Brissot P., Deugnier Y., Grandchamp B., Beaumont C.Haematologica 94:335-339(2009)
Structural and functional relationships of human ferritin H and L chains deduced from cDNA clones.Boyd D., Vecoli C., Belcher D.M., Jain S.K., Drysdale J.W.J. Biol. Chem. 260:11755-11761(1985)
Complete sequencing and characterization of 21,243 full-length human cDNAs.Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).The MGC Project Team
Genome Res. 14:2121-2127(2004)
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Products associated with FTL recombinant protein
Pathways associated with FTL recombinant protein
Diseases associated with FTL recombinant protein
Organs/Tissues associated with FTL recombinant protein
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