Descriptors Found: 1
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Descriptor English:   Hexosaminidase A 
Descriptor Spanish:   Hexosaminidasa A 
Descriptor Portuguese:   Hexosaminidase A 
Synonyms English:   Hex A
beta N Acetylhexosaminidase A
beta-N-Acetylhexosaminidase 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
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:   52716 
Unique Identifier:   D054818 

Occurrence in VHL: