Concept information
Preferred term
G(M2) Activator Protein
Type
-
Topical Descriptor
Broader concept
Entry terms
- Activator Protein, GM2
- GM(2) Activating Protein
- GM2 Activator Protein
- Hexosaminidase Activator
Scope note
- 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
- 2005(1983)
In other languages
-
Finnish
-
Swedish
URI
http://www.yso.fi/onto/mesh/D049289
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}