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HLA H ANTIGEN
Descriptors Found:
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DeCS
Descriptor
English
:
Hemochromatosis Protein
Descriptor
Spanish
:
Proteína de la Hemocromatosis
Descriptor
Portuguese
:
Proteína da Hemocromatose
Synonyms
English
:
Antigen, HLA-H
HFE Protein
HLA H Antigen
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
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
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