C224194Level 5
FTH1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human FTH1 wild-type allele is located in the vicinity of 11q12.3 and is approximately 8 kb in length. This allele, which encodes ferritin heavy chain protein, is involved in iron oxidation that regulates intracellular iron storage and tissue iron concentration. Mutations in the gene are associated with hemochromatosis 5 and neurodegeneration with brain iron accumulation 9.
**Synonyms:** - Apoferritin Gene - FHC - FTH - FTHL6 - Ferritin Heavy Chain 1 wt Allele - Ferritin, Heavy Polypeptide 1 Gene - H-Ferritin Gene - HFE5 - NBIA9 - PIG15 - PLIF - Placenta Immunoregulatory Factor Gene - Proliferation-Inducing Protein 15 Gene
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Cross-system equivalences0
No cross-system equivalences mapped for this node.