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HEXOSAMINIDASE A
Descriptors Found:
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DeCS
Descriptor
English
:
Hexosaminidase A
Descriptor
Spanish
:
Hexosaminidasa A
Descriptor
Portuguese
:
Hexosaminidase A
Synonyms
English
:
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
DU
diagnostic use
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