Ferritin ist ein Gen, das durch das Symbol FTL kodiert wird. Andere Namen sind: Ferritin light chain L subunit; FTL. Ferritin hat eine Masse von 20.02kDa, eine Aminosäurelänge von 175, und ist an folgenden Krankheiten beteiligt: Hyperferritinemia with or without cataract; Neurodegeneration with brain iron accumulation 3; L-ferritin deficiency.
Wir bieten 8 antikörper gegen Ferritin, aufgewachsen in Maus und Huhn, welche geeignet sind für WB, ELISA and sELISA mit Proben abgeleitet von Human.
Gen- und Proteininformationen
UniProt Zusammenfassung
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 (By similarity).
Entrez Zusammenfassung
This gene encodes the heavy subunit of ferritin, 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 ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined.
Rolle bei Krankheiten
Hyperferritinemia with or without cataract: An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients.
Neurodegeneration with brain iron accumulation 3: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels.
L-ferritin deficiency: A condition characterized by low levels of ferritin in serum and tissues in the absence of other hematological symptoms. Seizures and mild neuropsychologic impairment may manifest in individuals with complete ferritin deficiency.
Sequenzähnlichkeiten
Belongs to the ferritin family.
