Ferritin, Light Polypeptide (FTL)

Ferritin Light Chain; Ferritin Light Polypeptide-Like 3; L Apoferritin; Ferritin L Subunit

SPN	T762
HGNC	3999
MGI	95590
PubMed	11438811
RGD	61813
UniProt	P02792
Wiki	FTL

Ferritin light chain is an abnormally expressed in fetuses of both IVF and ICSI, which may contribute to the increase risk of birth defects in these ART.

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.

Reference

"Structural and functional relationships of human ferritin H and L chains deduced from cDNA clones."
J. Biol. Chem. 260:11755-11761(1985) [PubMed] [Europe PMC] [Abstract]

"Structure of human ferritin light subunit messenger RNA: comparison with heavy subunit message and functional implications."
Proc. Natl. Acad. Sci. U.S.A. 82:3139-3143(1985) [PubMed] [Europe PMC] [Abstract]

"Cloning of the gene coding for human L apoferritin."
Nucleic Acids Res. 14:2863-2876(1986) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The full-ORF clone resource of the German cDNA consortium."
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biology of human chromosome 19."
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Structure and expression of ferritin genes in a human promyelocytic cell line that differentiates in vitro."
Mol. Cell. Biol. 6:566-573(1986) [PubMed] [Europe PMC] [Abstract]

"The amino acid sequence of human liver apoferritin."
FEBS Lett. 164:139-144(1983) [PubMed] [Europe PMC] [Abstract]

"Characterization of the human small-ribosomal-subunit proteins by N-terminal and internal sequencing, and mass spectrometry."
Eur. J. Biochem. 239:144-149(1996) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome."
J. Exp. Med. 210:1779-1791(2013) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Structure of human ferritin L chain."
Acta Crystallogr. D 62:800-806(2006) [PubMed] [Europe PMC] [Abstract]

"Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration."
J. Biol. Chem. 285:1950-1956(2010) [PubMed] [Europe PMC] [Abstract]

"Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation."
J. Biol. Chem. 285:11948-11957(2010) [PubMed] [Europe PMC] [Abstract]

"Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement."
Neurology 65:603-605(2005) [PubMed] [Europe PMC] [Abstract]

"A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload."
Haematologica 94:335-339(2009) [PubMed] [Europe PMC] [Abstract]