Search on: G(M2) ACTIVATOR PROTEIN 
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Descriptor English:   G(M2) Activator Protein 
Descriptor Spanish:   Proteina Activadora de G (M2) 
Descriptor Portuguese:   Proteína Ativadora de G(M2) 
Tree Number:   D08.211.790.249
Definition English:   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. 
History Note English:   2005(1983) 
Allowable Qualifiers English:  
administration & dosage adverse effects
agonists antagonists & inhibitors
analysis biosynthesis
blood cerebrospinal fluid
chemistry classification
chemical synthesis contraindications
drug effects deficiency
diagnostic use economics
genetics history
immunology isolation & purification
metabolism pharmacology
physiology pharmacokinetics
poisoning radiation effects
supply & distribution secretion
standards toxicity
therapeutic use ultrastructure
urine  
Record Number:   38690 
Unique Identifier:   D049289 

Occurrence in VHL: 		 

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