- Concept UI
- M0002425
- Registry Numbers
- EC 3.2.1.52
- 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.
- Terms
-
Hexosaminidase A
Preferred Term
Term UI
T004677
Date06/02/1986
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
beta-N-Acetylhexosaminidase A
Term UI
T004676
Date06/02/1986
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Hex A
Term UI
T004678
Date06/02/1986
LexicalTag
ABB
ThesaurusID
UNK (19XX)