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Gene

FTH1

ferritin heavy chain 1

Summary

Cytogenetic location
11q12.3
Coordinates
Chromosome 11: 61,964,285–61,967,634 (GRCh38)
Exons
4 exons across 3.4 kb
Protein
183 amino acids
Also known as
FTH, PLIF, PIG15, FHC
Previous symbols
FTHL6
MANE Select transcript
ENST00000273550.12NM_002032.3
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 report relevant to this gene

  • 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 moderate
      • 1 GenCC submitter rates 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.

How FTH1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where FTH1 sits. FTH1 and 23 genes near it on chromosome 11, from 61,465,960 to 62,465,959.Chromosome 1111q12.3p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2561.6 Mb61.8 Mb62 Mb62.2 Mb62.4 Mb: 61,429,220–61,485,822, forward strandSDHAF2: 61,430,032–61,473,614, forward strandSDHAF2SAXO4: 61,481,120–61,490,931, forward strandSAXO4LRRC10B: 61,508,749–61,511,018, forward strandLRRC10BSYT7: 61,513,714–61,581,201, reverse strandSYT7DAGLA: 61,680,151–61,747,003, forward strandDAGLAMYRF: 61,752,593–61,788,518, forward strandTMEM258: 61,768,455–61,792,802, reverse strandTMEM258FEN1: 61,792,725–61,797,238, forward strandFEN1FADS2: 61,792,980–61,867,354, forward strandFADS2FADS1: 61,799,624–61,829,318, reverse strandFADS1FADS3: 61,873,515–61,892,136, reverse strandFADS3RAB3IL1: 61,897,232–61,920,289, reverse strandRAB3IL1BEST1: 61,949,808–61,965,515, forward strandBEST1FTH1: 61,964,285–61,967,634, reverse strandFTH1INCENP: 62,123,985–62,155,474, forward strandINCENPSCGB1D1: 62,190,216–62,193,539, forward strandSCGB1D1SCGB2A1: 62,208,666–62,213,943, forward strandSCGB2A1SCGB1D2: 62,242,210–62,244,812, forward strandSCGB1D2SCGB2A2: 62,270,158–62,273,160, forward strandSCGB2A2SCGB1D4: 62,296,281–62,299,075, reverse strandSCGB1D4ASRGL1: 62,337,347–62,393,415, forward strandASRGL1SCGB1A1: 62,405,103–62,423,195, forward strandSCGB1A1AHNAK: 62,433,532–62,556,235, reverse strandAHNAKDiagram of FTH1: 4 exons on the reverse strand of chromosome 11Exon 4: 2 known disease-causing sitesExon 4: 61,964,285–61,964,891, 607 basesExon 3: 61,964,987–61,965,112, 126 basesExon 2: 61,965,369–61,965,515, 147 basesExon 1: 61,967,312–61,967,634, 323 bases43215′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 1.2 kb of the gene's 3.4 kb; 552 of those bases code for the protein.

How a genome test reads FTH1

11

positions in FTH1 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (9.1%) falls in a region short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 3.4 kb of FTH1, introns included, not only the 1.2 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.). FTH1 gene: ferritin heavy chain 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/fth1

Vancouver

Dante Labs. FTH1 gene: ferritin heavy chain 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fth1

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