Details for Gene HFE

GENE NAME HFE
CHROMOSOME 6
ENSEMBL ID ENSG00000010704
ENTREZ ID 3077
UNIPROT ACCESSION NUMBER Q30201
GO MOLECULAR FUNCTION protein binding; transferrin receptor binding; signaling receptor binding; co-receptor binding; beta-2-microglobulin binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-917937; R-HSA-382551; R-HSA-917977
4 combinations linked to HFE OLI186; OLI966; OLI167; OLI187
3 variants linked to HFE HFE:p.His63Asp; HFE:p.Cys282Tyr; HFE:c.-48C>G,
3 diseases linked to HFE Rare hereditary hemochromatosis; Porphyria; Amyotrophic lateral sclerosis

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