Concept information
Preferred term
Hexosaminidase A
Type
-
Topical Descriptor
Broader concept
Narrower concepts
Entry terms
- beta N Acetylhexosaminidase A
- beta-N-Acetylhexosaminidase A
- Hex A
Note
- 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.
History note
- 2008(1987); for HEXOSAMINIDASE A use BETA-N-ACETYLHEXOSAMINIDASE 1987-2007
In other languages
-
Finnish
-
HEX A
-
Swedish
URI
http://www.yso.fi/onto/mesh/D054818
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