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HEMOCHROMATOSIS PROTEIN
Descriptors Found:
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DeCS
Descriptor
English
:
Hemochromatosis Protein
Descriptor
Spanish
:
Proteína de la Hemocromatosis
Descriptor
Portuguese
:
Proteína da Hemocromatose
Synonyms
English
:
HFE Protein
HLA-H Antigen
Antigen, HLA-H
HLA H Antigen
Tree Number:
D12.776.395.550.489.200
D12.776.543.550.439.200
D23.050.301.500.100.363
D23.050.705.552.100.375
Definition
English
:
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
English
:
2017
Allowable Qualifiers
English
:
AD
administration & dosage
AE
adverse effects
AG
agonists
AN
analysis
AI
antagonists & inhibitors
BI
biosynthesis
BL
blood
CF
cerebrospinal fluid
CS
chemical synthesis
CH
chemistry
CL
classification
CT
contraindications
DF
deficiency
DE
drug effects
EC
economics
GE
genetics
HI
history
IM
immunology
IP
isolation & purification
ME
metabolism
PK
pharmacokinetics
PD
pharmacology
PH
physiology
PO
poisoning
RE
radiation effects
SE
secretion
ST
standards
SD
supply & distribution
TU
therapeutic use
TO
toxicity
UL
ultrastructure
UR
urine
Record Number:
56631
Unique Identifier:
D000071020
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS