- Concept UI
- M0111676
- Registry Number
- 0
- Scope Note
- An essential cofactor for the degradation of G(M2)GANGLIOSIDE by lysosomal BETA-N-ACETYLHEXOSAMINIDASES. Genetic mutations resulting in loss of G(M2) activator protein are one of the causes of TAY-SACHS DISEASE, AB VARIANT.
- Terms
-
G(M2) Activator Protein
Preferred Term
Term UI
T141676
LexicalTag
NON
ThesaurusID
NLM (2005)
-
GM2 Activator Protein
Term UI
T141678
LexicalTag
NON
ThesaurusID
NLM (2005)
-
Hexosaminidase Activator
Term UI
T141679
LexicalTag
NON
ThesaurusID
NLM (2005)
-
GM(2) Activating Protein
Term UI
T141677
LexicalTag
NON
ThesaurusID
NLM (2005)