AlphaFold predicted structure
FTH1 · P02794
Mean pLDDT
95.3/ 100
Very high
183 residues
Confidence breakdown
- Very high(≥ 90)93%
- Confident(70–90)2%
- Low(50–70)2%
- Very low(< 50)3%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
FTH1
Chr 11q12.3ferritin heavy chain 1
- Aliases:
- FTH, PLIF, PIG15, FHC
- MANE:
- ENST00000273550.12
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIron metabolism disorders - NOT common HFE mutations
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
neurodegeneration with brain iron accumulation 9
0.59hemochromatosis type 5
0.56FTH1-related iron overload
0.55Retinal dystrophy
0.53autosomal recessive bestrophinopathy
0.53vitelliform macular dystrophy 2
0.52autosomal dominant vitreoretinochoroidopathy
0.44Stargardt disease
0.40retinitis pigmentosa 50
0.37severe early-childhood-onset retinal dystrophy
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Ferritin heavy chain
Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity (PubMed:9003196). Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation (PubMed:9003196). Also plays a role in delivery of iron to cells (By similarity). Mediates iron uptake in capsule cells of the developing kidney (By similarity). Delivery to lysosomes is mediated by the cargo receptor NCOA4 for autophagic degradation and release of iron (PubMed:24695223, PubMed:26436293)
Diseases associated with FTH1
Curated MONDO disease pages that list FTH1 among their top associated genes.