Mouse anti-Human/Rat sapiens (Human) FTL Monoclonal Antibody

Function

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). Delivery to lysosomes by the cargo receptor NCOA4 for autophagic degradation and release or iron (PubMed:24695223)

Subcellular Location

Cytoplasmic vesicle, autophagosome; Cytoplasm; Autolysosome

Disease Association

Hyperferritinemia with or without cataract (HRFTC) : 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. [The disease is caused by variants affecting the gene represented in this entry] | Neurodegeneration with brain iron accumulation 3 (NBIA3) : 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. [The disease is caused by variants affecting the gene represented in this entry] | L-ferritin deficiency (LFTD) : 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. [The disease is caused by variants affecting the gene represented in this entry]

Subunit

Oligomer of 24 subunits. There are two types of subunits: L (light) chain and H (heavy) chain. The major chain can be light or heavy, depending on the species and tissue type. The functional molecule forms a roughly spherical shell with a diameter of 12 nm and contains a central cavity into which the insoluble mineral iron core is deposited. Iron enters the spherical protein shell through pores that are formed between subunits. Mutations leading to truncation or the addition of extra residues at the C-terminus interfere with normal pore formation and with iron accumulation. Interacts with NCOA4 (PubMed:24695223)

• Boyd D. et al. Structural and functional relationships of human ferritin H and L chains deduced from cDNA clones. — J. Biol. Chem. (1985)
• Dorner M.H. et al. Structure of human ferritin light subunit messenger RNA: comparison with heavy subunit message and functional implications. — Proc. Natl. Acad. Sci. U.S.A. (1985)
• Santoro C. et al. Cloning of the gene coding for human L apoferritin. — Nucleic Acids Res. (1986)
• Jordan T.P. et al. Expression of a ferritin-like mRNA by abdominal aortic aneurysm (AAA) adventitial fibroblasts. (DEC-)
• Ebert L. et al. Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201). (JUN-)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Bechtel S. et al. The full-ORF clone resource of the German cDNA consortium. — BMC Genomics (2007)
• Grimwood J. et al. The DNA sequence and biology of human chromosome 19. — Nature (2004)