Protein-coding gene in the species Homo sapiens
FTH1 Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1FHA , 2CEI , 2CHI , 2CIH , 2CLU , 2CN6 , 2CN7 , 2FHA , 2IU2 , 2Z6M , 3AJO , 3AJP , 3AJQ , 3ERZ , 3ES3 , 4DYX , 4DYY , 4DYZ , 4DZ0 , 4OYN , 4Y08 , 4YKH , 4ZJK , 5CMQ , 5CMR
Identifiers Aliases FTH1 , FHC, FTH, FTHL6, HFE5, PIG15, PLIF, ferritin, heavy polypeptide 1, ferritin heavy chain 1External IDs OMIM : 134770 ; MGI : 95588 ; HomoloGene : 74295 ; GeneCards : FTH1 ; OMA :FTH1 - orthologs RNA expression patternBgee Human Mouse (ortholog)Top expressed in stromal cell of endometrium upper lobe of left lung tibial nerve right lung gastric mucosa Descending thoracic aorta mucosa of transverse colon left coronary artery C1 segment right adrenal cortex
Top expressed in globus pallidus deep cerebellar nuclei pontine nuclei fetal liver hematopoietic progenitor cell right kidney lateral geniculate nucleus endothelial cell of lymphatic vessel lateral hypothalamus dentate gyrus of hippocampal formation granule cell gastrula
More reference expression data
BioGPS
Wikidata
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]
^ a b c GRCh38: Ensembl release 89: ENSG00000167996 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024661 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Hentze MW, Keim S, Papadopoulos P, O'Brien S, Modi W, Drysdale J, Leonard WJ, Harford JB, Klausner RD (October 1986). "Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene" . Proceedings of the National Academy of Sciences of the United States of America . 83 (19): 7226–30. Bibcode :1986PNAS...83.7226H . doi :10.1073/pnas.83.19.7226 . PMC 386688 . PMID 3020541 .
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^ "Hemochromatosis type 5 - About the Disease - Genetic and Rare Diseases Information Center" .