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BETA-N-ACETYLHEXOSAMINIDASE A
Descriptors Found:
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DeCS
Descriptor
English
:
Hexosaminidase A
Descriptor
Spanish
:
Hexosaminidasa A
Descriptor
Portuguese
:
Hexosaminidase A
Synonyms
English
:
beta-N-Acetylhexosaminidase A
beta N Acetylhexosaminidase A
Hex A
Tree Number:
D08.811.277.450.483.180.750
Definition
English
:
A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of
hexosaminidase A
due to
mutations
in the gene encoding the hexosaminidase alpha subunit is a case of
TAY-SACHS DISEASE
. Deficiency of
hexosaminidase A
and
HEXOSAMINIDASE B
due to
mutations
in the gene encoding the hexosaminidase beta subunit is a case of
SANDHOFF DISEASE.
Indexing Annotation
English
:
for deficiency consider:
SANDHOFF DISEASE
or
TAY-SACHS DISEASE
See Related
English
:
Sandhoff Disease
Tay-Sachs Disease
History Note
English
:
2008(1987); for HEXOSAMINIDASE A use BETA-N-ACETYLHEXOSAMINIDASE 1987-2007
Allowable Qualifiers
English
:
AD
administration & dosage
AE
adverse effects
AN
analysis
AI
antagonists & inhibitors
BI
biosynthesis
BL
blood
CF
cerebrospinal fluid
CS
chemical synthesis
CH
chemistry
CL
classification
CT
contraindications
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:
52716
Unique Identifier:
D054818
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS