Concept information
Preferred term
Hemochromatosis Protein
Type
-
Topical Descriptor
Broader concept
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
-
Finnish
-
Swedish
-
HFE protein
-
HLA-H antigen
URI
http://www.yso.fi/onto/mesh/D000071020
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