|
1 / 1
|
DeCS
|
|
 |
|
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:
|
|
|
|
Record Number:
|
|
38690
|
|
Unique Identifier:
|
|
D049289
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS CID-10 LILACS
|