FTL ferritin light chain

Gene ID: 2512, updated on 5-Mar-2024
Gene type: protein coding
Also known as: FTL1; LFTD; NBIA3

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Hereditary hyperferritinemia with congenital cataracts MedGen: C1833213OMIM: 600886GeneReviews: Not available	See labs
L-ferritin deficiency MedGen: C3810090OMIM: 615604GeneReviews: Not available	See labs
Neuroferritinopathy MedGen: C1853578OMIM: 606159GeneReviews: Neuroferritinopathy, Neurodegeneration with Brain Iron Accumulation Disorders Overview	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2013-08-22) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2013-08-22) ClinGen Genome Curation Page

Genomic context

Location:: 19q13.33

Sequence:: Chromosome: 19; NC_000019.10 (48965309..48966879)

Total number of exons:: 4

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for FTL variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
FTL database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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