Search on: G(M2) 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) 
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 DU diagnostic use
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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