Hereditary Hemochromatosis Protein

Preferred Label : Hereditary Hemochromatosis Protein;

NCIt synonyms : Hereditary Hemochromatosis Protein HLA-H; HLA-H; MHC Class I-Like Protein HFE; HFE;

NCIt definition : Hereditary hemochromatosis protein (348 aa, 40 kDa) is encoded by the human HFE gene. This protein plays a role in the regulation of transport of iron.;

NCIt note : Hereditary hemochromatosis protein binds to transferin receptor; this interaction reduces the receptor's affinity for iron-bound transferrin. Mutant forms of hereditary hemochromatosis protein can cause iron overload, which, if untreated, may lead to liver, heart, and endocrine disorders and increased susceptibility to neurodegenerative diseases. (UniProt);

Details

Origin ID

C124877;

UMLS CUI

C0534369;

Automatic exact mappings (from CISMeF team)
- Hemochromatosis, type 1 [OMIM Phenotype]
- Homeostatic iron regulator [OMIM gene]
- Major histocompatibility complex, class I, a [OMIM gene]
- homeostatic iron regulator [ORDO Gene]
OMIM relation
- Homeostatic iron regulator [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Receptor [UMLS semantic type]
UMLS correspondences (same concept)
- HFE protein, human [MeSH Supplementary Concept]
- HFE protein, human [MeSH concept]
gene_encodes_gene_product
- HFE Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
gene_product_has_associated_anatomy
- Plasma Membrane [NCIt concept]
gene_product_has_chemical_classification
- MHC Class I Protein [NCIt concept]
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Transmembrane Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Ion Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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