FTH1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Ferritin heavy chain is a ferroxidase enzyme that in humans is encoded by the FTH1 gene.[5][6] FTH1 gene is located on chromosome 11, and its mutation causes Hemochromatosis type 5.[7]

PDBOrtholog search: PDBe RCSB
AliasesFTH1, FHC, FTH, FTHL6, HFE5, PIG15, PLIF, ferritin, heavy polypeptide 1, ferritin heavy chain 1
Quick facts Available structures, PDB ...
FTH1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFTH1, FHC, FTH, FTHL6, HFE5, PIG15, PLIF, ferritin, heavy polypeptide 1, ferritin heavy chain 1
External IDsOMIM: 134770; MGI: 95588; HomoloGene: 74295; GeneCards: FTH1; OMA:FTH1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002032

NM_010239

RefSeq (protein)

NP_002023

NP_034369

Location (UCSC)Chr 11: 61.96 – 61.97 MbChr 19: 9.96 – 9.96 Mb
PubMed search[3][4]
Wikidata
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Function

This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined.[6]

Interactions

FTH1 has been shown to interact with ferritin light chain.[8][9]

See also

References

Further reading

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