Search on: ACTIVATOR PROTEIN, GM2 
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Descriptor English:   G(M2) Activator Protein 
Descriptor Spanish:   Proteína Activadora de G (M2) 
Descriptor Portuguese:   Proteína Ativadora de G(M2) 
Synonyms English:   GM(2) Activating Protein
GM2 Activator Protein
Hexosaminidase Activator
Activator Protein, GM2  
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:  
AD administration & dosage AE adverse effects
AG agonists AN analysis
AI antagonists & inhibitors BI biosynthesis
BL blood CF cerebrospinal fluid
CS chemical synthesis CH chemistry
CL classification CT contraindications
DF deficiency DE drug effects
EC economics GE genetics
HI history IM immunology
IP isolation & purification ME metabolism
PK pharmacokinetics PD pharmacology
PH physiology PO poisoning
RE radiation effects SE secretion
ST standards SD supply & distribution
TU therapeutic use TO toxicity
UL ultrastructure UR urine
Record Number:   38690 
Unique Identifier:   D049289 

Occurrence in VHL:
 

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