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Hereditary Hemochromatosis Protein

Go to external page http://purl.obolibrary.org/obo/NCIT_C124877

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. [ ]

Term info

Label

Hereditary Hemochromatosis Protein

Synonyms
  • HLA-H
  • Hereditary Hemochromatosis Protein
  • Hereditary Hemochromatosis Protein HLA-H
  • MHC Class I-Like Protein HFE
DesignNote

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)

OMIM Number

613609

Preferred Name

Hereditary Hemochromatosis Protein

Semantic Type

Amino Acid, Peptide, or Protein

Swiss Prot

Q30201

UMLS CUI

C0534369

code

C124877