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BETA-HEXOSAMINIDASE BETA CHAIN
Descriptors Found:
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DeCS
Descriptor
English
:
beta-Hexosaminidase beta Chain
Descriptor
Spanish
:
Cadena beta de beta-Hexosaminidasa
Descriptor
Portuguese
:
Cadeia beta da beta-Hexosaminidase
Tree Number:
D08.811.277.450.483.180.750.750
D08.811.277.450.483.180.875.500
Definition
English
:
The beta subunit of
hexosaminidase A
and hexosamininidase B. Mutations in the gene that encodes this protein are linked to
SANDHOFF DISEASE
and can result in loss of both
hexosaminidase A
activity and
hexosaminidase B
activity.
Entry Combination - descr/qualif
English
:
beta-Hexosaminidase beta Chain
/
deficiency
use
Sandhoff Disease
History Note
English
:
2008
Allowable Qualifiers
English
:
administration & dosage
adverse effects
antagonists & inhibitors
analysis
biosynthesis
blood
cerebrospinal fluid
chemistry
classification
chemical synthesis
contraindications
drug effects
diagnostic use
economics
genetics
history
immunology
isolation & purification
metabolism
pharmacology
physiology
pharmacokinetics
poisoning
radiation effects
supply & distribution
secretion
standards
toxicity
therapeutic use
ultrastructure
urine
Record Number:
52718
Unique Identifier:
D054821
Occurrence in VHL
:
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