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 | OLI167; OLI186; OLI966; 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 |