Pesquisa sobre:
HEXOSAMINIDASE A
Descritores Encontrados:
1
Mostrando:
1 .. 1
1 / 1
DeCS
Descritor
Inglês
:
Hexosaminidase A
Descritor
Espanhol
:
Hexosaminidasa A
Descritor
Português
:
Hexosaminidase A
Sinônimos
Inglês
:
Hex A
beta N Acetylhexosaminidase A
beta-N-Acetylhexosaminidase A
Categoria:
D08.811.277.450.483.180.750
Definição
Inglês
:
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.
Nota de Indexação
Inglês
:
for deficiency consider:
SANDHOFF DISEASE
or
TAY-SACHS DISEASE
Relacionados
Inglês
:
Sandhoff Disease
Tay-Sachs Disease
Nota Histórica
Inglês
:
2008(1987); for HEXOSAMINIDASE A use BETA-N-ACETYLHEXOSAMINIDASE 1987-2007
Qualificadores Permitidos
Inglês
:
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
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
Número do Registro:
52716
Identificador Único:
D054818
Ocorrência na BVS
:
Similar:
DeCS