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Descriptor English: Hemochromatosis Protein
Descriptor Spanish: Proteína de la Hemocromatosis
Descriptor proteína de la hemocromatosis
Entry term(s) antígeno HLA-H
proteína HFE
Scope note: Proteína de membrana y antígeno CMH de clase I. Contiene un DOMINIO DE INMUNOGLOBULINA C1 e interacciona con la MICROGLOBULINA BETA-2. También puede regular la interacción de la TRANSFERRINA con el RECEPTOR DE TRANSFERRINA. Las mutaciones en el gen HFE se asocian a casos de HEMOCROMATOSIS FAMILIAR.
Descriptor Portuguese: Proteína da Hemocromatose
Descriptor French: Protéine de l'hémochromatose
Entry term(s): Antigen, HLA-H
HFE Protein
HLA H Antigen
HLA-H Antigen
Tree number(s): D09.400.430.890.489.200
D12.776.395.550.489.200
D12.776.543.550.439.200
D23.050.301.500.100.363
D23.050.705.552.100.375
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000071020
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.
Allowable Qualifiers: AD administration & dosage
AE adverse effects
AG agonists
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
DF deficiency
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine
Previous Indexing: Histocompatibility Antigens Class I (1997-2016)
Membrane Proteins (1997-2016)
Public MeSH Note: 2017
History Note: 2017
DeCS ID: 56631
Unique ID: D000071020
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2017/01/01
Date of Entry: 2016/07/08
Revision Date: 2016/07/01
Hemochromatosis Protein - Preferred
Concept UI M000612938
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.
Preferred term Hemochromatosis Protein
Entry term(s) Antigen, HLA-H
HFE Protein
HLA H Antigen
HLA-H Antigen



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