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Hexosaminidase A MeSH Descriptor Data 2023


MeSH Heading
Hexosaminidase A
Tree Number(s)
D08.811.277.450.483.180.750
Unique ID
D054818
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D054818
Annotation
for deficiency consider: SANDHOFF DISEASE or TAY-SACHS DISEASE
Scope Note
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.
Entry Term(s)
Hex A
beta-N-Acetylhexosaminidase A
Registry Number
EC 3.2.1.52
Previous Indexing
beta-N-Acetylhexosaminidases (1999-2007)
See Also
Sandhoff Disease
Tay-Sachs Disease
Public MeSH Note
2008; for HEXOSAMINIDASE A see BETA-N-ACETYLHEXOSAMINIDASE 1987-2007
History Note
2008(1987); for HEXOSAMINIDASE A use BETA-N-ACETYLHEXOSAMINIDASE 1987-2007
Date Established
2008/01/01
Date of Entry
2007/07/09
Revision Date
2009/07/21
Hexosaminidase A Preferred
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