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Concept information

Preferred term

Hemochromatosis Protein  

Type

  • Topical Descriptor

Entry terms

  • Antigen, HLA-H
  • HFE Protein
  • HLA H Antigen
  • HLA-H Antigen

Scope note

  • A membrane protein and MHC class I antigen. It contains an IMMUNOGLOBULIN C1-SET DOMAIN and interacts with BETA 2-MICROGLOBULIN. It may also regulate the interaction of TRANSFERRIN with the TRANSFERRIN RECEPTOR. Mutations in the HFE gene are associated with cases of FAMILIAL HEMOCHROMATOSIS.

History note

  • 2017

In other languages

URI

http://www.yso.fi/onto/mesh/D000071020

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