Search on: GM2 ACTIVATOR PROTEIN 
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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:   Activator Protein, GM2
GM(2) Activating Protein
GM2 Activator Protein
Hexosaminidase Activator  
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 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
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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