Engelsk definition
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.
G(M2) Activator Protein
G(M2)-aktivatorprotein
Svenska synonymer
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Engelska synonymer
GM2 Activator Protein — Activator Protein, GM2 — Hexosaminidase Activator — GM(2) Activating Protein