FTL
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FTL (HGNC:3999) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ferritin light chain
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
MGC71996, NBIA3, FTL1
%HI
16.73(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.55(Read more about gnomAD LOEUF score)
Cytoband
19q13.33
Genomic Coordinates
GRCh37/hg19: chr19:49468566-49470136 NCBI Ensembl UCSC
GRCh38/hg38: chr19:48965309-48966879 NCBI Ensembl UCSC
MANE Select Transcript
NM_000146.4 ENST00000331825.11 (Read more about MANE Select)
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). {ECO:0000250, ECO:0000269|PubMed:19923220, ECO:0000269|PubMed:20159981}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-17564
ClinGen Curation ID:
CCID:007167
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2013

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Two phenotypes are associated with mutations in FTL, but neither of them are due to haploinsufficiency. Changes in the FTL gene have been associated with neuroferritinopathy (see GeneReview). At the time of evaluation, six different frameshift and one missense mutation have been reported amongst individuals and families diagnosed with neuroferritinopathy (PMID: 23814539 for review). These mutations tend to impact the C-terminus and lead to extended proteins. Evidence suggests that these mutations act in a dominant-negative manner (PMID: 20159981). Mutations specific to the iron-responsive-element (IRS) in FTL cause hereditary hyperferritinemia-cataract syndrome (HHCS). These mutations interfere with negative feedback by circulating iron and lead to constitutive trancription of FTL. From Kroger et al. (2011) (PMID:21936912): "In 1995, Bonneau et al. speculated that the reason for the accumulation of L-ferritin in HHCS is a mutation on the IRE [iron-responsive element] coding region of L-ferritin [1]. In 1995, two groups in Italy and France simultaneously described the first two point mutations in the IRE of L-ferritin gene [3,4]. These mutations all change the structure of the IRE in a way which reduces or abolishes binding to the IRP. This leads to unregulated translation of the L-ferritin gene and consequently elevated levels of circulating L-ferritin [1,3,12,14,15]."

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)