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Gene

FTL

ferritin light chain

Summary

Cytogenetic location
19q13.33
Coordinates
Chromosome 19: 48,965,309–48,966,879 (GRCh38)
Exons
4 exons across 1.6 kb
Protein
175 amino acids
Inheritance
Autosomal dominant
Also known as
MGC71996, NBIA3, FTL1
MANE Select transcript
ENST00000331825.11NM_000146.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hereditary Congenital & Juvenile Cataract

    • Hereditary Hyperferritinaemia-Cataract SyndromeAutosomal dominant

      A dominant condition caused by changes in the iron-responsive element of the FTL gene, giving high ferritin levels without iron overload and early-onset cataract.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the cause prevents unnecessary investigation and treatment for iron overload, such as venesection.

  • Neurodegeneration with Brain Iron Accumulation (NBIA)

    • Neurodegeneration with Brain Iron Accumulation

      A group of disorders including PKAN (PANK2), PLAN (PLA2G6), MPAN (C19orf12), BPAN (WDR45), neuroferritinopathy (FTL) and aceruloplasminemia (CP), with mostly recessive inheritance.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Symptom treatment for dystonia and parkinsonism, iron chelation for aceruloplasminemia, and carrier testing for relatives in recessive forms.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How FTL is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where FTL sits. FTL and 57 genes near it on chromosome 19, from 48,466,094 to 49,466,093.Chromosome 1919q13.33p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4348.6 Mb48.8 Mb49 Mb49.2 Mb49.4 MbKCNJ14: 48,454,464–48,466,980, forward strandKCNJ14: 48,465,837–48,472,431, forward strandCYTH2: 48,469,203–48,482,314, forward strandCYTH2LMTK3: 48,485,271–48,513,935, reverse strandLMTK3SULT2B1: 48,552,140–48,599,425, forward strandSACK1E: 48,599,961–48,615,093, reverse strandSPACA4: 48,606,742–48,607,962, forward strandRPL18: 48,615,284–48,619,213, reverse strandRPL18SPHK2: 48,619,291–48,630,717, forward strandSPHK2DBP: 48,630,030–48,637,695, reverse strandDBPCA11: 48,637,946–48,646,386, reverse strandCA11NTN5: 48,661,407–48,673,081, reverse strandNTN5FUT2: 48,695,953–48,705,951, forward strandFUT2MAMSTR: 48,711,737–48,719,966, reverse strandRASIP1: 48,720,571–48,740,616, reverse strandRASIP1IZUMO1: 48,740,852–48,746,909, reverse strandIZUMO1FUT1: 48,748,011–48,755,390, reverse strandFUT1FGF21: 48,755,524–48,758,333, forward strandFGF21BCAT2: 48,795,061–48,811,066, reverse strandBCAT2HSD17B14: 48,813,014–48,837,064, reverse strandHSD17B14PLEKHA4: 48,837,091–48,868,855, reverse strandPLEKHA4PPP1R15A: 48,872,212–48,879,061, forward strandPPP1R15ATULP2: 48,880,965–48,898,744, reverse strandTULP2NUCB1: 48,900,050–48,923,958, forward strandNUCB1DHDH: 48,933,517–48,944,969, forward strandDHDHBAX: 48,954,815–48,961,806, forward strandBAXFTL: 48,965,309–48,966,879, forward strandFTLGYS1: 48,968,125–48,993,349, reverse strandGYS1RUVBL2: 48,993,476–49,017,868, forward strandRUVBL2LHB: 49,015,980–49,017,091, reverse strandLHBSAXO3: 49,017,968–49,020,549, reverse strandSAXO3CGB3: 49,022,869–49,024,360, reverse strand: 49,022,953–49,036,895, reverse strandCGB2: 49,031,890–49,033,238, forward strandCGB1: 49,035,569–49,036,895, reverse strandCGB5: 49,043,595–49,045,312, forward strandCGB8: 49,047,638–49,049,125, reverse strandCGB7: 49,054,274–49,058,860, reverse strand: 49,055,793–49,065,076, reverse strandNTF4: 49,061,066–49,065,076, reverse strandNTF4KCNA7: 49,067,397–49,072,702, reverse strandKCNA7SNRNP70: 49,085,164–49,108,618, forward strandLIN7B: 49,114,324–49,118,463, forward strandLIN7BC19orf73: 49,118,402–49,119,143, reverse strandPPFIA3: 49,119,401–49,151,027, forward strandPPFIA3HRC: 49,151,014–49,155,441, reverse strandHRCTRPM4: 49,157,737–49,211,841, forward strandTRPM4SLC6A16: 49,289,638–49,325,215, reverse strandSLC6A16CD37: 49,335,171–49,343,335, forward strandCD37TEAD2: 49,340,389–49,362,729, reverse strandTEAD2DKKL1: 49,361,783–49,375,120, forward strandDKKL1KASH5: 49,388,219–49,417,990, forward strandKASH5PTH2: 49,422,419–49,423,660, reverse strandPTH2GFY: 49,423,749–49,428,987, forward strandGFYSLC17A7: 49,429,399–49,443,197, reverse strandSLC17A7PIH1D1: 49,446,291–49,453,537, reverse strandALDH16A1: 49,453,146–49,471,052, forward strand: 49,462,752–49,486,231, forward strandDiagram of FTL: 4 exons on the forward strand of chromosome 19Exon 1: 12 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 1: 48,965,309–48,965,609, 301 basesExon 2: 48,965,770–48,965,916, 147 basesExon 3: 48,966,281–48,966,406, 126 basesExon 4: 48,966,583–48,966,879, 297 bases12345′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 0.9 kb of the gene's 1.6 kb; 528 of those bases code for the protein.

How a genome test reads FTL

20

positions in FTL where ClinVar classes a change as pathogenic or likely pathogenic

2 of them (10%) fall in regions short reads find hard.

  • Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 1.6 kb of FTL, introns included, not only the 0.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). FTL gene: ferritin light chain. Retrieved 16 October 2026, from https://dantelabs.com/genes/ftl

Vancouver

Dante Labs. FTL gene: ferritin light chain [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ftl

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